A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Identifieur interne : 001E05 ( PubMed/Corpus ); précédent : 001E04; suivant : 001E06A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Auteurs : Ilenia Simeoni ; Jonathan C. Stephens ; Fengyuan Hu ; Sri V V. Deevi ; Karyn Megy ; Tadbir K. Bariana ; Claire Lentaigne ; Sol Schulman ; Suthesh Sivapalaratnam ; Minka J A. Vries ; Sarah K. Westbury ; Daniel Greene ; Sofia Papadia ; Marie-Christine Alessi ; Antony P. Attwood ; Matthias Ballmaier ; Gareth Baynam ; Emilse Bermejo ; Marta Bertoli ; Paul F. Bray ; Loredana Bury ; Marco Cattaneo ; Peter Collins ; Louise C. Daugherty ; Rémi Favier ; Deborah L. French ; Bruce Furie ; Michael Gattens ; Manuela Germeshausen ; Cedric Ghevaert ; Anne C. Goodeve ; Jose A. Guerrero ; Daniel J. Hampshire ; Daniel P. Hart ; Johan W M. Heemskerk ; Yvonne M C. Henskens ; Marian Hill ; Nancy Hogg ; Jennifer D. Jolley ; Walter H. Kahr ; Anne M. Kelly ; Ron Kerr ; Myrto Kostadima ; Shinji Kunishima ; Michele P. Lambert ; Ri Liesner ; José A. L Pez ; Rutendo P. Mapeta ; Mary Mathias ; Carolyn M. Millar ; Amit Nathwani ; Marguerite Neerman-Arbez ; Alan T. Nurden ; Paquita Nurden ; Maha Othman ; Kathelijne Peerlinck ; David J. Perry ; Pawan Poudel ; Pieter Reitsma ; Matthew T. Rondina ; Peter A. Smethurst ; William Stevenson ; Artur Szkotak ; Salih Tuna ; Christel Van Geet ; Deborah Whitehorn ; David A. Wilcox ; Bin Zhang ; Shoshana Revel-Vilk ; Paolo Gresele ; Daniel B. Bellissimo ; Christopher J. Penkett ; Michael A. Laffan ; Andrew D. Mumford ; Augusto Rendon ; Keith Gomez ; Kathleen Freson ; Willem H. Ouwehand ; Ernest TurroSource :
- Blood [ 1528-0020 ] ; 2016.
English descriptors
- KwdEn :
- Blood Platelet Disorders (genetics), Case-Control Studies, DNA Copy Number Variations, Female, Genetic Association Studies (methods), Genetic Predisposition to Disease, Hemorrhage (genetics), High-Throughput Nucleotide Sequencing (methods), Humans, Male, Mutation, Polymorphism, Single Nucleotide, Sequence Analysis, DNA (methods), Thrombosis (genetics).
- MESH :
- genetics : Blood Platelet Disorders, Hemorrhage, Thrombosis.
- methods : Genetic Association Studies, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA.
- Case-Control Studies, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Humans, Male, Mutation, Polymorphism, Single Nucleotide.
Abstract
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large copy number variants (though not inversions) which are subjected to automated filtering for diagnostic prioritization, resulting in an average of 5.34 candidate variants per individual. We sequenced 159 and 137 samples, respectively, from cases with and without previously known causal variants. Among the latter group, 61 cases had clinical and laboratory phenotypes indicative of a particular molecular etiology, whereas the remainder had an a priori highly uncertain etiology. All previously detected variants were recapitulated and, when the etiology was suspected but unknown or uncertain, a molecular diagnosis was reached in 56 of 61 and only 8 of 76 cases, respectively. The latter category highlights the need for further research into novel causes of BPDs. The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD.
DOI: 10.1182/blood-2015-12-688267
PubMed: 27084890
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pubmed:27084890Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.</title><author><name sortKey="Simeoni, Ilenia" sort="Simeoni, Ilenia" uniqKey="Simeoni I" first="Ilenia" last="Simeoni">Ilenia Simeoni</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Stephens, Jonathan C" sort="Stephens, Jonathan C" uniqKey="Stephens J" first="Jonathan C" last="Stephens">Jonathan C. Stephens</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Hu, Fengyuan" sort="Hu, Fengyuan" uniqKey="Hu F" first="Fengyuan" last="Hu">Fengyuan Hu</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Deevi, Sri V V" sort="Deevi, Sri V V" uniqKey="Deevi S" first="Sri V V" last="Deevi">Sri V V. Deevi</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Megy, Karyn" sort="Megy, Karyn" uniqKey="Megy K" first="Karyn" last="Megy">Karyn Megy</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Bariana, Tadbir K" sort="Bariana, Tadbir K" uniqKey="Bariana T" first="Tadbir K" last="Bariana">Tadbir K. Bariana</name><affiliation><nlm:affiliation>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Lentaigne, Claire" sort="Lentaigne, Claire" uniqKey="Lentaigne C" first="Claire" last="Lentaigne">Claire Lentaigne</name><affiliation><nlm:affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Schulman, Sol" sort="Schulman, Sol" uniqKey="Schulman S" first="Sol" last="Schulman">Sol Schulman</name><affiliation><nlm:affiliation>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:affiliation></affiliation></author><author><name sortKey="Sivapalaratnam, Suthesh" sort="Sivapalaratnam, Suthesh" uniqKey="Sivapalaratnam S" first="Suthesh" last="Sivapalaratnam">Suthesh Sivapalaratnam</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Vries, Minka J A" sort="Vries, Minka J A" uniqKey="Vries M" first="Minka J A" last="Vries">Minka J A. Vries</name><affiliation><nlm:affiliation>Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:affiliation></affiliation></author><author><name sortKey="Westbury, Sarah K" sort="Westbury, Sarah K" uniqKey="Westbury S" first="Sarah K" last="Westbury">Sarah K. Westbury</name><affiliation><nlm:affiliation>School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Greene, Daniel" sort="Greene, Daniel" uniqKey="Greene D" first="Daniel" last="Greene">Daniel Greene</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Papadia, Sofia" sort="Papadia, Sofia" uniqKey="Papadia S" first="Sofia" last="Papadia">Sofia Papadia</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Alessi, Marie Christine" sort="Alessi, Marie Christine" uniqKey="Alessi M" first="Marie-Christine" last="Alessi">Marie-Christine Alessi</name><affiliation><nlm:affiliation>Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</nlm:affiliation></affiliation></author><author><name sortKey="Attwood, Antony P" sort="Attwood, Antony P" uniqKey="Attwood A" first="Antony P" last="Attwood">Antony P. Attwood</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Ballmaier, Matthias" sort="Ballmaier, Matthias" uniqKey="Ballmaier M" first="Matthias" last="Ballmaier">Matthias Ballmaier</name><affiliation><nlm:affiliation>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:affiliation></affiliation></author><author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name><affiliation><nlm:affiliation>School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia; Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia; Office of Population Health Genomics, WA Department of Health, East Perth, Australia; Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia; Telethon Kids Institute, Subiaco, Australia;</nlm:affiliation></affiliation></author><author><name sortKey="Bermejo, Emilse" sort="Bermejo, Emilse" uniqKey="Bermejo E" first="Emilse" last="Bermejo">Emilse Bermejo</name><affiliation><nlm:affiliation>Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</nlm:affiliation></affiliation></author><author><name sortKey="Bertoli, Marta" sort="Bertoli, Marta" uniqKey="Bertoli M" first="Marta" last="Bertoli">Marta Bertoli</name><affiliation><nlm:affiliation>San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</nlm:affiliation></affiliation></author><author><name sortKey="Bray, Paul F" sort="Bray, Paul F" uniqKey="Bray P" first="Paul F" last="Bray">Paul F. Bray</name><affiliation><nlm:affiliation>Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</nlm:affiliation></affiliation></author><author><name sortKey="Bury, Loredana" sort="Bury, Loredana" uniqKey="Bury L" first="Loredana" last="Bury">Loredana Bury</name><affiliation><nlm:affiliation>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:affiliation></affiliation></author><author><name sortKey="Cattaneo, Marco" sort="Cattaneo, Marco" uniqKey="Cattaneo M" first="Marco" last="Cattaneo">Marco Cattaneo</name><affiliation><nlm:affiliation>Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</nlm:affiliation></affiliation></author><author><name sortKey="Collins, Peter" sort="Collins, Peter" uniqKey="Collins P" first="Peter" last="Collins">Peter Collins</name><affiliation><nlm:affiliation>Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Daugherty, Louise C" sort="Daugherty, Louise C" uniqKey="Daugherty L" first="Louise C" last="Daugherty">Louise C. Daugherty</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Rémi" last="Favier">Rémi Favier</name><affiliation><nlm:affiliation>Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</nlm:affiliation></affiliation></author><author><name sortKey="French, Deborah L" sort="French, Deborah L" uniqKey="French D" first="Deborah L" last="French">Deborah L. French</name><affiliation><nlm:affiliation>Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA;</nlm:affiliation></affiliation></author><author><name sortKey="Furie, Bruce" sort="Furie, Bruce" uniqKey="Furie B" first="Bruce" last="Furie">Bruce Furie</name><affiliation><nlm:affiliation>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:affiliation></affiliation></author><author><name sortKey="Gattens, Michael" sort="Gattens, Michael" uniqKey="Gattens M" first="Michael" last="Gattens">Michael Gattens</name><affiliation><nlm:affiliation>Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Germeshausen, Manuela" sort="Germeshausen, Manuela" uniqKey="Germeshausen M" first="Manuela" last="Germeshausen">Manuela Germeshausen</name><affiliation><nlm:affiliation>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:affiliation></affiliation></author><author><name sortKey="Ghevaert, Cedric" sort="Ghevaert, Cedric" uniqKey="Ghevaert C" first="Cedric" last="Ghevaert">Cedric Ghevaert</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Goodeve, Anne C" sort="Goodeve, Anne C" uniqKey="Goodeve A" first="Anne C" last="Goodeve">Anne C. Goodeve</name><affiliation><nlm:affiliation>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Guerrero, Jose A" sort="Guerrero, Jose A" uniqKey="Guerrero J" first="Jose A" last="Guerrero">Jose A. Guerrero</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge.</nlm:affiliation></affiliation></author><author><name sortKey="Hampshire, Daniel J" sort="Hampshire, Daniel J" uniqKey="Hampshire D" first="Daniel J" last="Hampshire">Daniel J. Hampshire</name><affiliation><nlm:affiliation>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Hart, Daniel P" sort="Hart, Daniel P" uniqKey="Hart D" first="Daniel P" last="Hart">Daniel P. Hart</name><affiliation><nlm:affiliation>Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Heemskerk, Johan W M" sort="Heemskerk, Johan W M" uniqKey="Heemskerk J" first="Johan W M" last="Heemskerk">Johan W M. Heemskerk</name><affiliation><nlm:affiliation>Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</nlm:affiliation></affiliation></author><author><name sortKey="Henskens, Yvonne M C" sort="Henskens, Yvonne M C" uniqKey="Henskens Y" first="Yvonne M C" last="Henskens">Yvonne M C. Henskens</name><affiliation><nlm:affiliation>Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:affiliation></affiliation></author><author><name sortKey="Hill, Marian" sort="Hill, Marian" uniqKey="Hill M" first="Marian" last="Hill">Marian Hill</name><affiliation><nlm:affiliation>Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Hogg, Nancy" sort="Hogg, Nancy" uniqKey="Hogg N" first="Nancy" last="Hogg">Nancy Hogg</name><affiliation><nlm:affiliation>Cancer Research UK London Research Institute, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Jolley, Jennifer D" sort="Jolley, Jennifer D" uniqKey="Jolley J" first="Jennifer D" last="Jolley">Jennifer D. Jolley</name><affiliation><nlm:affiliation>Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Kahr, Walter H" sort="Kahr, Walter H" uniqKey="Kahr W" first="Walter H" last="Kahr">Walter H. Kahr</name><affiliation><nlm:affiliation>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:affiliation></affiliation></author><author><name sortKey="Kelly, Anne M" sort="Kelly, Anne M" uniqKey="Kelly A" first="Anne M" last="Kelly">Anne M. Kelly</name><affiliation><nlm:affiliation>Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Kerr, Ron" sort="Kerr, Ron" uniqKey="Kerr R" first="Ron" last="Kerr">Ron Kerr</name><affiliation><nlm:affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Kostadima, Myrto" sort="Kostadima, Myrto" uniqKey="Kostadima M" first="Myrto" last="Kostadima">Myrto Kostadima</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Kunishima, Shinji" sort="Kunishima, Shinji" uniqKey="Kunishima S" first="Shinji" last="Kunishima">Shinji Kunishima</name><affiliation><nlm:affiliation>Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</nlm:affiliation></affiliation></author><author><name sortKey="Lambert, Michele P" sort="Lambert, Michele P" uniqKey="Lambert M" first="Michele P" last="Lambert">Michele P. Lambert</name><affiliation><nlm:affiliation>Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</nlm:affiliation></affiliation></author><author><name sortKey="Liesner, Ri" sort="Liesner, Ri" uniqKey="Liesner R" first="Ri" last="Liesner">Ri Liesner</name><affiliation><nlm:affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="L Pez, Jose A" sort="L Pez, Jose A" uniqKey="L Pez J" first="José A" last="L Pez">José A. L Pez</name><affiliation><nlm:affiliation>Puget Sound Blood Center, Research Institute, Seattle, WA;</nlm:affiliation></affiliation></author><author><name sortKey="Mapeta, Rutendo P" sort="Mapeta, Rutendo P" uniqKey="Mapeta R" first="Rutendo P" last="Mapeta">Rutendo P. Mapeta</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Mathias, Mary" sort="Mathias, Mary" uniqKey="Mathias M" first="Mary" last="Mathias">Mary Mathias</name><affiliation><nlm:affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Millar, Carolyn M" sort="Millar, Carolyn M" uniqKey="Millar C" first="Carolyn M" last="Millar">Carolyn M. Millar</name><affiliation><nlm:affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Nathwani, Amit" sort="Nathwani, Amit" uniqKey="Nathwani A" first="Amit" last="Nathwani">Amit Nathwani</name><affiliation><nlm:affiliation>Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Neerman Arbez, Marguerite" sort="Neerman Arbez, Marguerite" uniqKey="Neerman Arbez M" first="Marguerite" last="Neerman-Arbez">Marguerite Neerman-Arbez</name><affiliation><nlm:affiliation>Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</nlm:affiliation></affiliation></author><author><name sortKey="Nurden, Alan T" sort="Nurden, Alan T" uniqKey="Nurden A" first="Alan T" last="Nurden">Alan T. Nurden</name><affiliation><nlm:affiliation>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:affiliation></affiliation></author><author><name sortKey="Nurden, Paquita" sort="Nurden, Paquita" uniqKey="Nurden P" first="Paquita" last="Nurden">Paquita Nurden</name><affiliation><nlm:affiliation>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:affiliation></affiliation></author><author><name sortKey="Othman, Maha" sort="Othman, Maha" uniqKey="Othman M" first="Maha" last="Othman">Maha Othman</name><affiliation><nlm:affiliation>Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</nlm:affiliation></affiliation></author><author><name sortKey="Peerlinck, Kathelijne" sort="Peerlinck, Kathelijne" uniqKey="Peerlinck K" first="Kathelijne" last="Peerlinck">Kathelijne Peerlinck</name><affiliation><nlm:affiliation>Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</nlm:affiliation></affiliation></author><author><name sortKey="Perry, David J" sort="Perry, David J" uniqKey="Perry D" first="David J" last="Perry">David J. Perry</name><affiliation><nlm:affiliation>Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Poudel, Pawan" sort="Poudel, Pawan" uniqKey="Poudel P" first="Pawan" last="Poudel">Pawan Poudel</name><affiliation><nlm:affiliation>Institute of Cancer Research, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Reitsma, Pieter" sort="Reitsma, Pieter" uniqKey="Reitsma P" first="Pieter" last="Reitsma">Pieter Reitsma</name><affiliation><nlm:affiliation>Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</nlm:affiliation></affiliation></author><author><name sortKey="Rondina, Matthew T" sort="Rondina, Matthew T" uniqKey="Rondina M" first="Matthew T" last="Rondina">Matthew T. Rondina</name><affiliation><nlm:affiliation>University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</nlm:affiliation></affiliation></author><author><name sortKey="Smethurst, Peter A" sort="Smethurst, Peter A" uniqKey="Smethurst P" first="Peter A" last="Smethurst">Peter A. Smethurst</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:affiliation></affiliation></author><author><name sortKey="Stevenson, William" sort="Stevenson, William" uniqKey="Stevenson W" first="William" last="Stevenson">William Stevenson</name><affiliation><nlm:affiliation>Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia; Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</nlm:affiliation></affiliation></author><author><name sortKey="Szkotak, Artur" sort="Szkotak, Artur" uniqKey="Szkotak A" first="Artur" last="Szkotak">Artur Szkotak</name><affiliation><nlm:affiliation>Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</nlm:affiliation></affiliation></author><author><name sortKey="Tuna, Salih" sort="Tuna, Salih" uniqKey="Tuna S" first="Salih" last="Tuna">Salih Tuna</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Van Geet, Christel" sort="Van Geet, Christel" uniqKey="Van Geet C" first="Christel" last="Van Geet">Christel Van Geet</name><affiliation><nlm:affiliation>Institute of Cancer Research, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Whitehorn, Deborah" sort="Whitehorn, Deborah" uniqKey="Whitehorn D" first="Deborah" last="Whitehorn">Deborah Whitehorn</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Wilcox, David A" sort="Wilcox, David A" uniqKey="Wilcox D" first="David A" last="Wilcox">David A. Wilcox</name><affiliation><nlm:affiliation>Children's Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Bin" sort="Zhang, Bin" uniqKey="Zhang B" first="Bin" last="Zhang">Bin Zhang</name><affiliation><nlm:affiliation>Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</nlm:affiliation></affiliation></author><author><name sortKey="Revel Vilk, Shoshana" sort="Revel Vilk, Shoshana" uniqKey="Revel Vilk S" first="Shoshana" last="Revel-Vilk">Shoshana Revel-Vilk</name><affiliation><nlm:affiliation>Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</nlm:affiliation></affiliation></author><author><name sortKey="Gresele, Paolo" sort="Gresele, Paolo" uniqKey="Gresele P" first="Paolo" last="Gresele">Paolo Gresele</name><affiliation><nlm:affiliation>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:affiliation></affiliation></author><author><name sortKey="Bellissimo, Daniel B" sort="Bellissimo, Daniel B" uniqKey="Bellissimo D" first="Daniel B" last="Bellissimo">Daniel B. Bellissimo</name><affiliation><nlm:affiliation>Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</nlm:affiliation></affiliation></author><author><name sortKey="Penkett, Christopher J" sort="Penkett, Christopher J" uniqKey="Penkett C" first="Christopher J" last="Penkett">Christopher J. Penkett</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Laffan, Michael A" sort="Laffan, Michael A" uniqKey="Laffan M" first="Michael A" last="Laffan">Michael A. Laffan</name><affiliation><nlm:affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Mumford, Andrew D" sort="Mumford, Andrew D" uniqKey="Mumford A" first="Andrew D" last="Mumford">Andrew D. Mumford</name><affiliation><nlm:affiliation>School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Rendon, Augusto" sort="Rendon, Augusto" uniqKey="Rendon A" first="Augusto" last="Rendon">Augusto Rendon</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, Genomics England Limited, London, United Kingdom; and.</nlm:affiliation></affiliation></author><author><name sortKey="Gomez, Keith" sort="Gomez, Keith" uniqKey="Gomez K" first="Keith" last="Gomez">Keith Gomez</name><affiliation><nlm:affiliation>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Freson, Kathleen" sort="Freson, Kathleen" uniqKey="Freson K" first="Kathleen" last="Freson">Kathleen Freson</name><affiliation><nlm:affiliation>Institute of Cancer Research, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Ouwehand, Willem H" sort="Ouwehand, Willem H" uniqKey="Ouwehand W" first="Willem H" last="Ouwehand">Willem H. Ouwehand</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Turro, Ernest" sort="Turro, Ernest" uniqKey="Turro E" first="Ernest" last="Turro">Ernest Turro</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27084890</idno><idno type="pmid">27084890</idno><idno type="doi">10.1182/blood-2015-12-688267</idno><idno type="wicri:Area/PubMed/Corpus">001E05</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001E05</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.</title><author><name sortKey="Simeoni, Ilenia" sort="Simeoni, Ilenia" uniqKey="Simeoni I" first="Ilenia" last="Simeoni">Ilenia Simeoni</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Stephens, Jonathan C" sort="Stephens, Jonathan C" uniqKey="Stephens J" first="Jonathan C" last="Stephens">Jonathan C. Stephens</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Hu, Fengyuan" sort="Hu, Fengyuan" uniqKey="Hu F" first="Fengyuan" last="Hu">Fengyuan Hu</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Deevi, Sri V V" sort="Deevi, Sri V V" uniqKey="Deevi S" first="Sri V V" last="Deevi">Sri V V. Deevi</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Megy, Karyn" sort="Megy, Karyn" uniqKey="Megy K" first="Karyn" last="Megy">Karyn Megy</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Bariana, Tadbir K" sort="Bariana, Tadbir K" uniqKey="Bariana T" first="Tadbir K" last="Bariana">Tadbir K. Bariana</name><affiliation><nlm:affiliation>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Lentaigne, Claire" sort="Lentaigne, Claire" uniqKey="Lentaigne C" first="Claire" last="Lentaigne">Claire Lentaigne</name><affiliation><nlm:affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Schulman, Sol" sort="Schulman, Sol" uniqKey="Schulman S" first="Sol" last="Schulman">Sol Schulman</name><affiliation><nlm:affiliation>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:affiliation></affiliation></author><author><name sortKey="Sivapalaratnam, Suthesh" sort="Sivapalaratnam, Suthesh" uniqKey="Sivapalaratnam S" first="Suthesh" last="Sivapalaratnam">Suthesh Sivapalaratnam</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Vries, Minka J A" sort="Vries, Minka J A" uniqKey="Vries M" first="Minka J A" last="Vries">Minka J A. Vries</name><affiliation><nlm:affiliation>Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:affiliation></affiliation></author><author><name sortKey="Westbury, Sarah K" sort="Westbury, Sarah K" uniqKey="Westbury S" first="Sarah K" last="Westbury">Sarah K. Westbury</name><affiliation><nlm:affiliation>School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Greene, Daniel" sort="Greene, Daniel" uniqKey="Greene D" first="Daniel" last="Greene">Daniel Greene</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Papadia, Sofia" sort="Papadia, Sofia" uniqKey="Papadia S" first="Sofia" last="Papadia">Sofia Papadia</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Alessi, Marie Christine" sort="Alessi, Marie Christine" uniqKey="Alessi M" first="Marie-Christine" last="Alessi">Marie-Christine Alessi</name><affiliation><nlm:affiliation>Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</nlm:affiliation></affiliation></author><author><name sortKey="Attwood, Antony P" sort="Attwood, Antony P" uniqKey="Attwood A" first="Antony P" last="Attwood">Antony P. Attwood</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Ballmaier, Matthias" sort="Ballmaier, Matthias" uniqKey="Ballmaier M" first="Matthias" last="Ballmaier">Matthias Ballmaier</name><affiliation><nlm:affiliation>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:affiliation></affiliation></author><author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name><affiliation><nlm:affiliation>School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia; Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia; Office of Population Health Genomics, WA Department of Health, East Perth, Australia; Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia; Telethon Kids Institute, Subiaco, Australia;</nlm:affiliation></affiliation></author><author><name sortKey="Bermejo, Emilse" sort="Bermejo, Emilse" uniqKey="Bermejo E" first="Emilse" last="Bermejo">Emilse Bermejo</name><affiliation><nlm:affiliation>Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</nlm:affiliation></affiliation></author><author><name sortKey="Bertoli, Marta" sort="Bertoli, Marta" uniqKey="Bertoli M" first="Marta" last="Bertoli">Marta Bertoli</name><affiliation><nlm:affiliation>San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</nlm:affiliation></affiliation></author><author><name sortKey="Bray, Paul F" sort="Bray, Paul F" uniqKey="Bray P" first="Paul F" last="Bray">Paul F. Bray</name><affiliation><nlm:affiliation>Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</nlm:affiliation></affiliation></author><author><name sortKey="Bury, Loredana" sort="Bury, Loredana" uniqKey="Bury L" first="Loredana" last="Bury">Loredana Bury</name><affiliation><nlm:affiliation>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:affiliation></affiliation></author><author><name sortKey="Cattaneo, Marco" sort="Cattaneo, Marco" uniqKey="Cattaneo M" first="Marco" last="Cattaneo">Marco Cattaneo</name><affiliation><nlm:affiliation>Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</nlm:affiliation></affiliation></author><author><name sortKey="Collins, Peter" sort="Collins, Peter" uniqKey="Collins P" first="Peter" last="Collins">Peter Collins</name><affiliation><nlm:affiliation>Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Daugherty, Louise C" sort="Daugherty, Louise C" uniqKey="Daugherty L" first="Louise C" last="Daugherty">Louise C. Daugherty</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Rémi" last="Favier">Rémi Favier</name><affiliation><nlm:affiliation>Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</nlm:affiliation></affiliation></author><author><name sortKey="French, Deborah L" sort="French, Deborah L" uniqKey="French D" first="Deborah L" last="French">Deborah L. French</name><affiliation><nlm:affiliation>Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA;</nlm:affiliation></affiliation></author><author><name sortKey="Furie, Bruce" sort="Furie, Bruce" uniqKey="Furie B" first="Bruce" last="Furie">Bruce Furie</name><affiliation><nlm:affiliation>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:affiliation></affiliation></author><author><name sortKey="Gattens, Michael" sort="Gattens, Michael" uniqKey="Gattens M" first="Michael" last="Gattens">Michael Gattens</name><affiliation><nlm:affiliation>Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Germeshausen, Manuela" sort="Germeshausen, Manuela" uniqKey="Germeshausen M" first="Manuela" last="Germeshausen">Manuela Germeshausen</name><affiliation><nlm:affiliation>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:affiliation></affiliation></author><author><name sortKey="Ghevaert, Cedric" sort="Ghevaert, Cedric" uniqKey="Ghevaert C" first="Cedric" last="Ghevaert">Cedric Ghevaert</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Goodeve, Anne C" sort="Goodeve, Anne C" uniqKey="Goodeve A" first="Anne C" last="Goodeve">Anne C. Goodeve</name><affiliation><nlm:affiliation>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Guerrero, Jose A" sort="Guerrero, Jose A" uniqKey="Guerrero J" first="Jose A" last="Guerrero">Jose A. Guerrero</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge.</nlm:affiliation></affiliation></author><author><name sortKey="Hampshire, Daniel J" sort="Hampshire, Daniel J" uniqKey="Hampshire D" first="Daniel J" last="Hampshire">Daniel J. Hampshire</name><affiliation><nlm:affiliation>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Hart, Daniel P" sort="Hart, Daniel P" uniqKey="Hart D" first="Daniel P" last="Hart">Daniel P. Hart</name><affiliation><nlm:affiliation>Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Heemskerk, Johan W M" sort="Heemskerk, Johan W M" uniqKey="Heemskerk J" first="Johan W M" last="Heemskerk">Johan W M. Heemskerk</name><affiliation><nlm:affiliation>Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</nlm:affiliation></affiliation></author><author><name sortKey="Henskens, Yvonne M C" sort="Henskens, Yvonne M C" uniqKey="Henskens Y" first="Yvonne M C" last="Henskens">Yvonne M C. Henskens</name><affiliation><nlm:affiliation>Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:affiliation></affiliation></author><author><name sortKey="Hill, Marian" sort="Hill, Marian" uniqKey="Hill M" first="Marian" last="Hill">Marian Hill</name><affiliation><nlm:affiliation>Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Hogg, Nancy" sort="Hogg, Nancy" uniqKey="Hogg N" first="Nancy" last="Hogg">Nancy Hogg</name><affiliation><nlm:affiliation>Cancer Research UK London Research Institute, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Jolley, Jennifer D" sort="Jolley, Jennifer D" uniqKey="Jolley J" first="Jennifer D" last="Jolley">Jennifer D. Jolley</name><affiliation><nlm:affiliation>Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Kahr, Walter H" sort="Kahr, Walter H" uniqKey="Kahr W" first="Walter H" last="Kahr">Walter H. Kahr</name><affiliation><nlm:affiliation>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:affiliation></affiliation></author><author><name sortKey="Kelly, Anne M" sort="Kelly, Anne M" uniqKey="Kelly A" first="Anne M" last="Kelly">Anne M. Kelly</name><affiliation><nlm:affiliation>Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Kerr, Ron" sort="Kerr, Ron" uniqKey="Kerr R" first="Ron" last="Kerr">Ron Kerr</name><affiliation><nlm:affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Kostadima, Myrto" sort="Kostadima, Myrto" uniqKey="Kostadima M" first="Myrto" last="Kostadima">Myrto Kostadima</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Kunishima, Shinji" sort="Kunishima, Shinji" uniqKey="Kunishima S" first="Shinji" last="Kunishima">Shinji Kunishima</name><affiliation><nlm:affiliation>Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</nlm:affiliation></affiliation></author><author><name sortKey="Lambert, Michele P" sort="Lambert, Michele P" uniqKey="Lambert M" first="Michele P" last="Lambert">Michele P. Lambert</name><affiliation><nlm:affiliation>Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</nlm:affiliation></affiliation></author><author><name sortKey="Liesner, Ri" sort="Liesner, Ri" uniqKey="Liesner R" first="Ri" last="Liesner">Ri Liesner</name><affiliation><nlm:affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="L Pez, Jose A" sort="L Pez, Jose A" uniqKey="L Pez J" first="José A" last="L Pez">José A. L Pez</name><affiliation><nlm:affiliation>Puget Sound Blood Center, Research Institute, Seattle, WA;</nlm:affiliation></affiliation></author><author><name sortKey="Mapeta, Rutendo P" sort="Mapeta, Rutendo P" uniqKey="Mapeta R" first="Rutendo P" last="Mapeta">Rutendo P. Mapeta</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Mathias, Mary" sort="Mathias, Mary" uniqKey="Mathias M" first="Mary" last="Mathias">Mary Mathias</name><affiliation><nlm:affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Millar, Carolyn M" sort="Millar, Carolyn M" uniqKey="Millar C" first="Carolyn M" last="Millar">Carolyn M. Millar</name><affiliation><nlm:affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Nathwani, Amit" sort="Nathwani, Amit" uniqKey="Nathwani A" first="Amit" last="Nathwani">Amit Nathwani</name><affiliation><nlm:affiliation>Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Neerman Arbez, Marguerite" sort="Neerman Arbez, Marguerite" uniqKey="Neerman Arbez M" first="Marguerite" last="Neerman-Arbez">Marguerite Neerman-Arbez</name><affiliation><nlm:affiliation>Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</nlm:affiliation></affiliation></author><author><name sortKey="Nurden, Alan T" sort="Nurden, Alan T" uniqKey="Nurden A" first="Alan T" last="Nurden">Alan T. Nurden</name><affiliation><nlm:affiliation>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:affiliation></affiliation></author><author><name sortKey="Nurden, Paquita" sort="Nurden, Paquita" uniqKey="Nurden P" first="Paquita" last="Nurden">Paquita Nurden</name><affiliation><nlm:affiliation>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:affiliation></affiliation></author><author><name sortKey="Othman, Maha" sort="Othman, Maha" uniqKey="Othman M" first="Maha" last="Othman">Maha Othman</name><affiliation><nlm:affiliation>Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</nlm:affiliation></affiliation></author><author><name sortKey="Peerlinck, Kathelijne" sort="Peerlinck, Kathelijne" uniqKey="Peerlinck K" first="Kathelijne" last="Peerlinck">Kathelijne Peerlinck</name><affiliation><nlm:affiliation>Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</nlm:affiliation></affiliation></author><author><name sortKey="Perry, David J" sort="Perry, David J" uniqKey="Perry D" first="David J" last="Perry">David J. Perry</name><affiliation><nlm:affiliation>Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Poudel, Pawan" sort="Poudel, Pawan" uniqKey="Poudel P" first="Pawan" last="Poudel">Pawan Poudel</name><affiliation><nlm:affiliation>Institute of Cancer Research, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Reitsma, Pieter" sort="Reitsma, Pieter" uniqKey="Reitsma P" first="Pieter" last="Reitsma">Pieter Reitsma</name><affiliation><nlm:affiliation>Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</nlm:affiliation></affiliation></author><author><name sortKey="Rondina, Matthew T" sort="Rondina, Matthew T" uniqKey="Rondina M" first="Matthew T" last="Rondina">Matthew T. Rondina</name><affiliation><nlm:affiliation>University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</nlm:affiliation></affiliation></author><author><name sortKey="Smethurst, Peter A" sort="Smethurst, Peter A" uniqKey="Smethurst P" first="Peter A" last="Smethurst">Peter A. Smethurst</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:affiliation></affiliation></author><author><name sortKey="Stevenson, William" sort="Stevenson, William" uniqKey="Stevenson W" first="William" last="Stevenson">William Stevenson</name><affiliation><nlm:affiliation>Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia; Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</nlm:affiliation></affiliation></author><author><name sortKey="Szkotak, Artur" sort="Szkotak, Artur" uniqKey="Szkotak A" first="Artur" last="Szkotak">Artur Szkotak</name><affiliation><nlm:affiliation>Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</nlm:affiliation></affiliation></author><author><name sortKey="Tuna, Salih" sort="Tuna, Salih" uniqKey="Tuna S" first="Salih" last="Tuna">Salih Tuna</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Van Geet, Christel" sort="Van Geet, Christel" uniqKey="Van Geet C" first="Christel" last="Van Geet">Christel Van Geet</name><affiliation><nlm:affiliation>Institute of Cancer Research, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Whitehorn, Deborah" sort="Whitehorn, Deborah" uniqKey="Whitehorn D" first="Deborah" last="Whitehorn">Deborah Whitehorn</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Wilcox, David A" sort="Wilcox, David A" uniqKey="Wilcox D" first="David A" last="Wilcox">David A. Wilcox</name><affiliation><nlm:affiliation>Children's Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Bin" sort="Zhang, Bin" uniqKey="Zhang B" first="Bin" last="Zhang">Bin Zhang</name><affiliation><nlm:affiliation>Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</nlm:affiliation></affiliation></author><author><name sortKey="Revel Vilk, Shoshana" sort="Revel Vilk, Shoshana" uniqKey="Revel Vilk S" first="Shoshana" last="Revel-Vilk">Shoshana Revel-Vilk</name><affiliation><nlm:affiliation>Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</nlm:affiliation></affiliation></author><author><name sortKey="Gresele, Paolo" sort="Gresele, Paolo" uniqKey="Gresele P" first="Paolo" last="Gresele">Paolo Gresele</name><affiliation><nlm:affiliation>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:affiliation></affiliation></author><author><name sortKey="Bellissimo, Daniel B" sort="Bellissimo, Daniel B" uniqKey="Bellissimo D" first="Daniel B" last="Bellissimo">Daniel B. Bellissimo</name><affiliation><nlm:affiliation>Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</nlm:affiliation></affiliation></author><author><name sortKey="Penkett, Christopher J" sort="Penkett, Christopher J" uniqKey="Penkett C" first="Christopher J" last="Penkett">Christopher J. Penkett</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</nlm:affiliation></affiliation></author><author><name sortKey="Laffan, Michael A" sort="Laffan, Michael A" uniqKey="Laffan M" first="Michael A" last="Laffan">Michael A. Laffan</name><affiliation><nlm:affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Mumford, Andrew D" sort="Mumford, Andrew D" uniqKey="Mumford A" first="Andrew D" last="Mumford">Andrew D. Mumford</name><affiliation><nlm:affiliation>School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Rendon, Augusto" sort="Rendon, Augusto" uniqKey="Rendon A" first="Augusto" last="Rendon">Augusto Rendon</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, Genomics England Limited, London, United Kingdom; and.</nlm:affiliation></affiliation></author><author><name sortKey="Gomez, Keith" sort="Gomez, Keith" uniqKey="Gomez K" first="Keith" last="Gomez">Keith Gomez</name><affiliation><nlm:affiliation>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Freson, Kathleen" sort="Freson, Kathleen" uniqKey="Freson K" first="Kathleen" last="Freson">Kathleen Freson</name><affiliation><nlm:affiliation>Institute of Cancer Research, London, United Kingdom;</nlm:affiliation></affiliation></author><author><name sortKey="Ouwehand, Willem H" sort="Ouwehand, Willem H" uniqKey="Ouwehand W" first="Willem H" last="Ouwehand">Willem H. Ouwehand</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Turro, Ernest" sort="Turro, Ernest" uniqKey="Turro E" first="Ernest" last="Turro">Ernest Turro</name><affiliation><nlm:affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:affiliation></affiliation></author></analytic><series><title level="j">Blood</title><idno type="eISSN">1528-0020</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Blood Platelet Disorders (genetics)</term><term>Case-Control Studies</term><term>DNA Copy Number Variations</term><term>Female</term><term>Genetic Association Studies (methods)</term><term>Genetic Predisposition to Disease</term><term>Hemorrhage (genetics)</term><term>High-Throughput Nucleotide Sequencing (methods)</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term><term>Sequence Analysis, DNA (methods)</term><term>Thrombosis (genetics)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blood Platelet Disorders</term><term>Hemorrhage</term><term>Thrombosis</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Association Studies</term><term>High-Throughput Nucleotide Sequencing</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term><term>DNA Copy Number Variations</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large copy number variants (though not inversions) which are subjected to automated filtering for diagnostic prioritization, resulting in an average of 5.34 candidate variants per individual. We sequenced 159 and 137 samples, respectively, from cases with and without previously known causal variants. Among the latter group, 61 cases had clinical and laboratory phenotypes indicative of a particular molecular etiology, whereas the remainder had an a priori highly uncertain etiology. All previously detected variants were recapitulated and, when the etiology was suspected but unknown or uncertain, a molecular diagnosis was reached in 56 of 61 and only 8 of 76 cases, respectively. The latter category highlights the need for further research into novel causes of BPDs. The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27084890</PMID><DateCreated><Year>2016</Year><Month>06</Month><Day>10</Day></DateCreated><DateCompleted><Year>2017</Year><Month>08</Month><Day>08</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>22</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1528-0020</ISSN><JournalIssue CitedMedium="Internet"><Volume>127</Volume><Issue>23</Issue><PubDate><Year>2016</Year><Month>Jun</Month><Day>09</Day></PubDate></JournalIssue><Title>Blood</Title><ISOAbbreviation>Blood</ISOAbbreviation></Journal><ArticleTitle>A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.</ArticleTitle><Pagination><MedlinePgn>2791-803</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1182/blood-2015-12-688267</ELocationID><Abstract><AbstractText>Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large copy number variants (though not inversions) which are subjected to automated filtering for diagnostic prioritization, resulting in an average of 5.34 candidate variants per individual. We sequenced 159 and 137 samples, respectively, from cases with and without previously known causal variants. Among the latter group, 61 cases had clinical and laboratory phenotypes indicative of a particular molecular etiology, whereas the remainder had an a priori highly uncertain etiology. All previously detected variants were recapitulated and, when the etiology was suspected but unknown or uncertain, a molecular diagnosis was reached in 56 of 61 and only 8 of 76 cases, respectively. The latter category highlights the need for further research into novel causes of BPDs. The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD.</AbstractText><CopyrightInformation>© 2016 by The American Society of Hematology.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Simeoni</LastName><ForeName>Ilenia</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stephens</LastName><ForeName>Jonathan C</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hu</LastName><ForeName>Fengyuan</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Deevi</LastName><ForeName>Sri V V</ForeName><Initials>SV</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Megy</LastName><ForeName>Karyn</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bariana</LastName><ForeName>Tadbir K</ForeName><Initials>TK</Initials><AffiliationInfo><Affiliation>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lentaigne</LastName><ForeName>Claire</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schulman</LastName><ForeName>Sol</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sivapalaratnam</LastName><ForeName>Suthesh</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vries</LastName><ForeName>Minka J A</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Westbury</LastName><ForeName>Sarah K</ForeName><Initials>SK</Initials><AffiliationInfo><Affiliation>School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Greene</LastName><ForeName>Daniel</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Papadia</LastName><ForeName>Sofia</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Alessi</LastName><ForeName>Marie-Christine</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Attwood</LastName><ForeName>Antony P</ForeName><Initials>AP</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ballmaier</LastName><ForeName>Matthias</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baynam</LastName><ForeName>Gareth</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia; Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia; Office of Population Health Genomics, WA Department of Health, East Perth, Australia; Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia; Telethon Kids Institute, Subiaco, Australia;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bermejo</LastName><ForeName>Emilse</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bertoli</LastName><ForeName>Marta</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bray</LastName><ForeName>Paul F</ForeName><Initials>PF</Initials><AffiliationInfo><Affiliation>Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bury</LastName><ForeName>Loredana</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cattaneo</LastName><ForeName>Marco</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collins</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Daugherty</LastName><ForeName>Louise C</ForeName><Initials>LC</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Favier</LastName><ForeName>Rémi</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>French</LastName><ForeName>Deborah L</ForeName><Initials>DL</Initials><AffiliationInfo><Affiliation>Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Furie</LastName><ForeName>Bruce</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gattens</LastName><ForeName>Michael</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Germeshausen</LastName><ForeName>Manuela</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ghevaert</LastName><ForeName>Cedric</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goodeve</LastName><ForeName>Anne C</ForeName><Initials>AC</Initials><AffiliationInfo><Affiliation>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guerrero</LastName><ForeName>Jose A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hampshire</LastName><ForeName>Daniel J</ForeName><Initials>DJ</Initials><AffiliationInfo><Affiliation>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hart</LastName><ForeName>Daniel P</ForeName><Initials>DP</Initials><AffiliationInfo><Affiliation>Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Heemskerk</LastName><ForeName>Johan W M</ForeName><Initials>JW</Initials><AffiliationInfo><Affiliation>Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Henskens</LastName><ForeName>Yvonne M C</ForeName><Initials>YM</Initials><AffiliationInfo><Affiliation>Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hill</LastName><ForeName>Marian</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hogg</LastName><ForeName>Nancy</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Cancer Research UK London Research Institute, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jolley</LastName><ForeName>Jennifer D</ForeName><Initials>JD</Initials><AffiliationInfo><Affiliation>Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kahr</LastName><ForeName>Walter H</ForeName><Initials>WH</Initials><AffiliationInfo><Affiliation>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kelly</LastName><ForeName>Anne M</ForeName><Initials>AM</Initials><AffiliationInfo><Affiliation>Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kerr</LastName><ForeName>Ron</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kostadima</LastName><ForeName>Myrto</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kunishima</LastName><ForeName>Shinji</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lambert</LastName><ForeName>Michele P</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Liesner</LastName><ForeName>Ri</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>López</LastName><ForeName>José A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Puget Sound Blood Center, Research Institute, Seattle, WA;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mapeta</LastName><ForeName>Rutendo P</ForeName><Initials>RP</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mathias</LastName><ForeName>Mary</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Millar</LastName><ForeName>Carolyn M</ForeName><Initials>CM</Initials><AffiliationInfo><Affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nathwani</LastName><ForeName>Amit</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Haematology, University College London Cancer Institute, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Neerman-Arbez</LastName><ForeName>Marguerite</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nurden</LastName><ForeName>Alan T</ForeName><Initials>AT</Initials><AffiliationInfo><Affiliation>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nurden</LastName><ForeName>Paquita</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Othman</LastName><ForeName>Maha</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Peerlinck</LastName><ForeName>Kathelijne</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Perry</LastName><ForeName>David J</ForeName><Initials>DJ</Initials><AffiliationInfo><Affiliation>Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Poudel</LastName><ForeName>Pawan</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Institute of Cancer Research, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reitsma</LastName><ForeName>Pieter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rondina</LastName><ForeName>Matthew T</ForeName><Initials>MT</Initials><AffiliationInfo><Affiliation>University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Smethurst</LastName><ForeName>Peter A</ForeName><Initials>PA</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stevenson</LastName><ForeName>William</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia; Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Szkotak</LastName><ForeName>Artur</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tuna</LastName><ForeName>Salih</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Geet</LastName><ForeName>Christel</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institute of Cancer Research, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Whitehorn</LastName><ForeName>Deborah</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wilcox</LastName><ForeName>David A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Children's Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Bin</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Revel-Vilk</LastName><ForeName>Shoshana</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gresele</LastName><ForeName>Paolo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bellissimo</LastName><ForeName>Daniel B</ForeName><Initials>DB</Initials><AffiliationInfo><Affiliation>Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Penkett</LastName><ForeName>Christopher J</ForeName><Initials>CJ</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laffan</LastName><ForeName>Michael A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and Imperial College Healthcare National Health Service Trust, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mumford</LastName><ForeName>Andrew D</ForeName><Initials>AD</Initials><AffiliationInfo><Affiliation>School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom; School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rendon</LastName><ForeName>Augusto</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, Genomics England Limited, London, United Kingdom; and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gomez</LastName><ForeName>Keith</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom; Department of Haematology, University College London Cancer Institute, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Freson</LastName><ForeName>Kathleen</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute of Cancer Research, London, United Kingdom;</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ouwehand</LastName><ForeName>Willem H</ForeName><Initials>WH</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Turro</LastName><ForeName>Ernest</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>RP-PG-0310-1002</GrantID><Agency>Department of Health</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MR/K023489/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>FS/09/039/27788</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>R01 HL094505</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>MR/J011711/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>RG/09/012/28096</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MR/L022982/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MC_PC_12009</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>04</Month><Day>15</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Blood</MedlineTA><NlmUniqueID>7603509</NlmUniqueID><ISSNLinking>0006-4971</ISSNLinking></MedlineJournalInfo><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Front Genet. 2015 Jun 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MajorTopicYN="N">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="Y">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006470" MajorTopicYN="N">Hemorrhage</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D059014" MajorTopicYN="N">High-Throughput Nucleotide Sequencing</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017422" 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