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<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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Hu, Fengyuan" sort="Hu, Fengyuan" uniqKey="Hu F" first="Fengyuan" last="Hu">Fengyuan Hu</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation></author><author><name sortKey="Megy, Karyn" sort="Megy, Karyn" uniqKey="Megy K" first="Karyn" last="Megy">Karyn Megy</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff5">The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Lentaigne, Claire" sort="Lentaigne, Claire" uniqKey="Lentaigne C" first="Claire" last="Lentaigne">Claire Lentaigne</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Schulman, Sol" sort="Schulman, Sol" uniqKey="Schulman S" first="Sol" last="Schulman">Sol Schulman</name><affiliation><nlm:aff id="aff9">Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:aff></affiliation></author><author><name sortKey="Sivapalaratnam, Suthesh" sort="Sivapalaratnam, Suthesh" uniqKey="Sivapalaratnam S" first="Suthesh" last="Sivapalaratnam">Suthesh Sivapalaratnam</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:aff></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:aff id="aff11">Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:aff></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:aff id="aff12">School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Greene, Daniel" sort="Greene, Daniel" uniqKey="Greene D" first="Daniel" last="Greene">Daniel Greene</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Papadia, Sofia" sort="Papadia, Sofia" uniqKey="Papadia S" first="Sofia" last="Papadia">Sofia Papadia</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff14">Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Ballmaier, Matthias" sort="Ballmaier, Matthias" uniqKey="Ballmaier M" first="Matthias" last="Ballmaier">Matthias Ballmaier</name><affiliation><nlm:aff id="aff15">Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:aff></affiliation></author><author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name><affiliation><nlm:aff id="aff16">School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Office of Population Health Genomics, WA Department of Health, East Perth, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Telethon Kids Institute, Subiaco, Australia;</nlm:aff></affiliation></author><author><name sortKey="Bermejo, Emilse" sort="Bermejo, Emilse" uniqKey="Bermejo E" first="Emilse" last="Bermejo">Emilse Bermejo</name><affiliation><nlm:aff id="aff21">Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</nlm:aff></affiliation></author><author><name sortKey="Bertoli, Marta" sort="Bertoli, Marta" uniqKey="Bertoli M" first="Marta" last="Bertoli">Marta Bertoli</name><affiliation><nlm:aff id="aff22">San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</nlm:aff></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:aff id="aff23">Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Bury, Loredana" sort="Bury, Loredana" uniqKey="Bury L" first="Loredana" last="Bury">Loredana Bury</name><affiliation><nlm:aff id="aff24">Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:aff></affiliation></author><author><name sortKey="Cattaneo, Marco" sort="Cattaneo, Marco" uniqKey="Cattaneo M" first="Marco" last="Cattaneo">Marco Cattaneo</name><affiliation><nlm:aff id="aff25">Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</nlm:aff></affiliation></author><author><name sortKey="Collins, Peter" sort="Collins, Peter" uniqKey="Collins P" first="Peter" last="Collins">Peter Collins</name><affiliation><nlm:aff id="aff26">Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Rémi" last="Favier">Rémi Favier</name><affiliation><nlm:aff id="aff27">Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</nlm:aff></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:aff id="aff28">Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Furie, Bruce" sort="Furie, Bruce" uniqKey="Furie B" first="Bruce" last="Furie">Bruce Furie</name><affiliation><nlm:aff id="aff9">Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:aff></affiliation></author><author><name sortKey="Gattens, Michael" sort="Gattens, Michael" uniqKey="Gattens M" first="Michael" last="Gattens">Michael Gattens</name><affiliation><nlm:aff id="aff29">Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Germeshausen, Manuela" sort="Germeshausen, Manuela" uniqKey="Germeshausen M" first="Manuela" last="Germeshausen">Manuela Germeshausen</name><affiliation><nlm:aff id="aff15">Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:aff></affiliation></author><author><name sortKey="Ghevaert, Cedric" sort="Ghevaert, Cedric" uniqKey="Ghevaert C" first="Cedric" last="Ghevaert">Cedric Ghevaert</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></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:aff id="aff30">Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></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:aff id="aff30">Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:aff></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:aff id="aff10">Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:aff></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:aff id="aff31">Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</nlm:aff></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:aff id="aff11">Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:aff></affiliation></author><author><name sortKey="Hill, Marian" sort="Hill, Marian" uniqKey="Hill M" first="Marian" last="Hill">Marian Hill</name><affiliation><nlm:aff id="aff32">Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Hogg, Nancy" sort="Hogg, Nancy" uniqKey="Hogg N" first="Nancy" last="Hogg">Nancy Hogg</name><affiliation><nlm:aff id="aff33">Cancer Research UK London Research Institute, London, United Kingdom;</nlm:aff></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:aff id="aff34">Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</nlm:aff></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:aff id="aff35">Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:aff></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:aff id="aff36">Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Kerr, Ron" sort="Kerr, Ron" uniqKey="Kerr R" first="Ron" last="Kerr">Ron Kerr</name><affiliation><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Kostadima, Myrto" sort="Kostadima, Myrto" uniqKey="Kostadima M" first="Myrto" last="Kostadima">Myrto Kostadima</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation></author><author><name sortKey="Kunishima, Shinji" sort="Kunishima, Shinji" uniqKey="Kunishima S" first="Shinji" last="Kunishima">Shinji Kunishima</name><affiliation><nlm:aff id="aff38">Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</nlm:aff></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:aff id="aff28">Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</nlm:aff></affiliation><affiliation><nlm:aff id="aff39">Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Liesner, Ri" sort="Liesner, Ri" uniqKey="Liesner R" first="Ri" last="Liesner">Ri Liesner</name><affiliation><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff></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:aff id="aff40">Puget Sound Blood Center, Research Institute, Seattle, WA;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation></author><author><name sortKey="Mathias, Mary" sort="Mathias, Mary" uniqKey="Mathias M" first="Mary" last="Mathias">Mary Mathias</name><affiliation><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff></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:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Nathwani, Amit" sort="Nathwani, Amit" uniqKey="Nathwani A" first="Amit" last="Nathwani">Amit Nathwani</name><affiliation><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff></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:aff id="aff41">Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</nlm:aff></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:aff id="aff42">Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:aff></affiliation></author><author><name sortKey="Nurden, Paquita" sort="Nurden, Paquita" uniqKey="Nurden P" first="Paquita" last="Nurden">Paquita Nurden</name><affiliation><nlm:aff id="aff42">Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:aff></affiliation></author><author><name sortKey="Othman, Maha" sort="Othman, Maha" uniqKey="Othman M" first="Maha" last="Othman">Maha Othman</name><affiliation><nlm:aff id="aff43">Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</nlm:aff></affiliation></author><author><name sortKey="Peerlinck, Kathelijne" sort="Peerlinck, Kathelijne" uniqKey="Peerlinck K" first="Kathelijne" last="Peerlinck">Kathelijne Peerlinck</name><affiliation><nlm:aff id="aff44">Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</nlm:aff></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:aff id="aff29">Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Poudel, Pawan" sort="Poudel, Pawan" uniqKey="Poudel P" first="Pawan" last="Poudel">Pawan Poudel</name><affiliation><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Reitsma, Pieter" sort="Reitsma, Pieter" uniqKey="Reitsma P" first="Pieter" last="Reitsma">Pieter Reitsma</name><affiliation><nlm:aff id="aff46">Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff></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:aff id="aff47">University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff id="aff35">Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:aff></affiliation></author><author><name sortKey="Stevenson, William" sort="Stevenson, William" uniqKey="Stevenson W" first="William" last="Stevenson">William Stevenson</name><affiliation><nlm:aff id="aff48">Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff49">Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</nlm:aff></affiliation></author><author><name sortKey="Szkotak, Artur" sort="Szkotak, Artur" uniqKey="Szkotak A" first="Artur" last="Szkotak">Artur Szkotak</name><affiliation><nlm:aff id="aff50">Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</nlm:aff></affiliation></author><author><name sortKey="Tuna, Salih" sort="Tuna, Salih" uniqKey="Tuna S" first="Salih" last="Tuna">Salih Tuna</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Whitehorn, Deborah" sort="Whitehorn, Deborah" uniqKey="Whitehorn D" first="Deborah" last="Whitehorn">Deborah Whitehorn</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff51">Children’s Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</nlm:aff></affiliation></author><author><name sortKey="Zhang, Bin" sort="Zhang, Bin" uniqKey="Zhang B" first="Bin" last="Zhang">Bin Zhang</name><affiliation><nlm:aff id="aff52">Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</nlm:aff></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:aff id="aff53">Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</nlm:aff></affiliation></author><author><name sortKey="Gresele, Paolo" sort="Gresele, Paolo" uniqKey="Gresele P" first="Paolo" last="Gresele">Paolo Gresele</name><affiliation><nlm:aff id="aff24">Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:aff></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:aff id="aff54">Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff></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:aff id="aff12">School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff55">School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Rendon, Augusto" sort="Rendon, Augusto" uniqKey="Rendon A" first="Augusto" last="Rendon">Augusto Rendon</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff56">Genomics England Limited, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Gomez, Keith" sort="Gomez, Keith" uniqKey="Gomez K" first="Keith" last="Gomez">Keith Gomez</name><affiliation><nlm:aff id="aff5">The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Freson, Kathleen" sort="Freson, Kathleen" uniqKey="Freson K" first="Kathleen" last="Freson">Kathleen Freson</name><affiliation><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff57">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Turro, Ernest" sort="Turro, Ernest" uniqKey="Turro E" first="Ernest" last="Turro">Ernest Turro</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27084890</idno><idno type="pmc">5016734</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016734</idno><idno type="RBID">PMC:5016734</idno><idno type="doi">10.1182/blood-2015-12-688267</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001808</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001808</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Hu, Fengyuan" sort="Hu, Fengyuan" uniqKey="Hu F" first="Fengyuan" last="Hu">Fengyuan Hu</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation></author><author><name sortKey="Megy, Karyn" sort="Megy, Karyn" uniqKey="Megy K" first="Karyn" last="Megy">Karyn Megy</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff5">The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Lentaigne, Claire" sort="Lentaigne, Claire" uniqKey="Lentaigne C" first="Claire" last="Lentaigne">Claire Lentaigne</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Schulman, Sol" sort="Schulman, Sol" uniqKey="Schulman S" first="Sol" last="Schulman">Sol Schulman</name><affiliation><nlm:aff id="aff9">Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:aff></affiliation></author><author><name sortKey="Sivapalaratnam, Suthesh" sort="Sivapalaratnam, Suthesh" uniqKey="Sivapalaratnam S" first="Suthesh" last="Sivapalaratnam">Suthesh Sivapalaratnam</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:aff></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:aff id="aff11">Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:aff></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:aff id="aff12">School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Greene, Daniel" sort="Greene, Daniel" uniqKey="Greene D" first="Daniel" last="Greene">Daniel Greene</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Papadia, Sofia" sort="Papadia, Sofia" uniqKey="Papadia S" first="Sofia" last="Papadia">Sofia Papadia</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff14">Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Ballmaier, Matthias" sort="Ballmaier, Matthias" uniqKey="Ballmaier M" first="Matthias" last="Ballmaier">Matthias Ballmaier</name><affiliation><nlm:aff id="aff15">Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:aff></affiliation></author><author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name><affiliation><nlm:aff id="aff16">School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Office of Population Health Genomics, WA Department of Health, East Perth, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Telethon Kids Institute, Subiaco, Australia;</nlm:aff></affiliation></author><author><name sortKey="Bermejo, Emilse" sort="Bermejo, Emilse" uniqKey="Bermejo E" first="Emilse" last="Bermejo">Emilse Bermejo</name><affiliation><nlm:aff id="aff21">Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</nlm:aff></affiliation></author><author><name sortKey="Bertoli, Marta" sort="Bertoli, Marta" uniqKey="Bertoli M" first="Marta" last="Bertoli">Marta Bertoli</name><affiliation><nlm:aff id="aff22">San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</nlm:aff></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:aff id="aff23">Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Bury, Loredana" sort="Bury, Loredana" uniqKey="Bury L" first="Loredana" last="Bury">Loredana Bury</name><affiliation><nlm:aff id="aff24">Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:aff></affiliation></author><author><name sortKey="Cattaneo, Marco" sort="Cattaneo, Marco" uniqKey="Cattaneo M" first="Marco" last="Cattaneo">Marco Cattaneo</name><affiliation><nlm:aff id="aff25">Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</nlm:aff></affiliation></author><author><name sortKey="Collins, Peter" sort="Collins, Peter" uniqKey="Collins P" first="Peter" last="Collins">Peter Collins</name><affiliation><nlm:aff id="aff26">Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Rémi" last="Favier">Rémi Favier</name><affiliation><nlm:aff id="aff27">Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</nlm:aff></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:aff id="aff28">Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Furie, Bruce" sort="Furie, Bruce" uniqKey="Furie B" first="Bruce" last="Furie">Bruce Furie</name><affiliation><nlm:aff id="aff9">Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:aff></affiliation></author><author><name sortKey="Gattens, Michael" sort="Gattens, Michael" uniqKey="Gattens M" first="Michael" last="Gattens">Michael Gattens</name><affiliation><nlm:aff id="aff29">Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Germeshausen, Manuela" sort="Germeshausen, Manuela" uniqKey="Germeshausen M" first="Manuela" last="Germeshausen">Manuela Germeshausen</name><affiliation><nlm:aff id="aff15">Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:aff></affiliation></author><author><name sortKey="Ghevaert, Cedric" sort="Ghevaert, Cedric" uniqKey="Ghevaert C" first="Cedric" last="Ghevaert">Cedric Ghevaert</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></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:aff id="aff30">Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></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:aff id="aff30">Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:aff></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:aff id="aff10">Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:aff></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:aff id="aff31">Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</nlm:aff></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:aff id="aff11">Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:aff></affiliation></author><author><name sortKey="Hill, Marian" sort="Hill, Marian" uniqKey="Hill M" first="Marian" last="Hill">Marian Hill</name><affiliation><nlm:aff id="aff32">Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Hogg, Nancy" sort="Hogg, Nancy" uniqKey="Hogg N" first="Nancy" last="Hogg">Nancy Hogg</name><affiliation><nlm:aff id="aff33">Cancer Research UK London Research Institute, London, United Kingdom;</nlm:aff></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:aff id="aff34">Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</nlm:aff></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:aff id="aff35">Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:aff></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:aff id="aff36">Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Kerr, Ron" sort="Kerr, Ron" uniqKey="Kerr R" first="Ron" last="Kerr">Ron Kerr</name><affiliation><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Kostadima, Myrto" sort="Kostadima, Myrto" uniqKey="Kostadima M" first="Myrto" last="Kostadima">Myrto Kostadima</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation></author><author><name sortKey="Kunishima, Shinji" sort="Kunishima, Shinji" uniqKey="Kunishima S" first="Shinji" last="Kunishima">Shinji Kunishima</name><affiliation><nlm:aff id="aff38">Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</nlm:aff></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:aff id="aff28">Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</nlm:aff></affiliation><affiliation><nlm:aff id="aff39">Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</nlm:aff></affiliation></author><author><name sortKey="Liesner, Ri" sort="Liesner, Ri" uniqKey="Liesner R" first="Ri" last="Liesner">Ri Liesner</name><affiliation><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff></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:aff id="aff40">Puget Sound Blood Center, Research Institute, Seattle, WA;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation></author><author><name sortKey="Mathias, Mary" sort="Mathias, Mary" uniqKey="Mathias M" first="Mary" last="Mathias">Mary Mathias</name><affiliation><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff></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:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Nathwani, Amit" sort="Nathwani, Amit" uniqKey="Nathwani A" first="Amit" last="Nathwani">Amit Nathwani</name><affiliation><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff></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:aff id="aff41">Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</nlm:aff></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:aff id="aff42">Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:aff></affiliation></author><author><name sortKey="Nurden, Paquita" sort="Nurden, Paquita" uniqKey="Nurden P" first="Paquita" last="Nurden">Paquita Nurden</name><affiliation><nlm:aff id="aff42">Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:aff></affiliation></author><author><name sortKey="Othman, Maha" sort="Othman, Maha" uniqKey="Othman M" first="Maha" last="Othman">Maha Othman</name><affiliation><nlm:aff id="aff43">Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</nlm:aff></affiliation></author><author><name sortKey="Peerlinck, Kathelijne" sort="Peerlinck, Kathelijne" uniqKey="Peerlinck K" first="Kathelijne" last="Peerlinck">Kathelijne Peerlinck</name><affiliation><nlm:aff id="aff44">Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</nlm:aff></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:aff id="aff29">Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Poudel, Pawan" sort="Poudel, Pawan" uniqKey="Poudel P" first="Pawan" last="Poudel">Pawan Poudel</name><affiliation><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Reitsma, Pieter" sort="Reitsma, Pieter" uniqKey="Reitsma P" first="Pieter" last="Reitsma">Pieter Reitsma</name><affiliation><nlm:aff id="aff46">Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff></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:aff id="aff47">University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff id="aff35">Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:aff></affiliation></author><author><name sortKey="Stevenson, William" sort="Stevenson, William" uniqKey="Stevenson W" first="William" last="Stevenson">William Stevenson</name><affiliation><nlm:aff id="aff48">Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia;</nlm:aff></affiliation><affiliation><nlm:aff id="aff49">Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</nlm:aff></affiliation></author><author><name sortKey="Szkotak, Artur" sort="Szkotak, Artur" uniqKey="Szkotak A" first="Artur" last="Szkotak">Artur Szkotak</name><affiliation><nlm:aff id="aff50">Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</nlm:aff></affiliation></author><author><name sortKey="Tuna, Salih" sort="Tuna, Salih" uniqKey="Tuna S" first="Salih" last="Tuna">Salih Tuna</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Whitehorn, Deborah" sort="Whitehorn, Deborah" uniqKey="Whitehorn D" first="Deborah" last="Whitehorn">Deborah Whitehorn</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff id="aff51">Children’s Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</nlm:aff></affiliation></author><author><name sortKey="Zhang, Bin" sort="Zhang, Bin" uniqKey="Zhang B" first="Bin" last="Zhang">Bin Zhang</name><affiliation><nlm:aff id="aff52">Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</nlm:aff></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:aff id="aff53">Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</nlm:aff></affiliation></author><author><name sortKey="Gresele, Paolo" sort="Gresele, Paolo" uniqKey="Gresele P" first="Paolo" last="Gresele">Paolo Gresele</name><affiliation><nlm:aff id="aff24">Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:aff></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:aff id="aff54">Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></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:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff></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:aff id="aff12">School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff55">School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Rendon, Augusto" sort="Rendon, Augusto" uniqKey="Rendon A" first="Augusto" last="Rendon">Augusto Rendon</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff56">Genomics England Limited, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Gomez, Keith" sort="Gomez, Keith" uniqKey="Gomez K" first="Keith" last="Gomez">Keith Gomez</name><affiliation><nlm:aff id="aff5">The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Freson, Kathleen" sort="Freson, Kathleen" uniqKey="Freson K" first="Kathleen" last="Freson">Kathleen Freson</name><affiliation><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff></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:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff57">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Turro, Ernest" sort="Turro, Ernest" uniqKey="Turro E" first="Ernest" last="Turro">Ernest Turro</name><affiliation><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff></affiliation></author></analytic><series><title level="j">Blood</title><idno type="ISSN">0006-4971</idno><idno type="eISSN">1528-0020</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><bold>Publisher's Note:</bold> There is an <related-article id="d36e1066" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2016-04-703215">Inside <italic>Blood</italic> Commentary</related-article> on this article in this issue.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Blood</journal-id><journal-id journal-id-type="iso-abbrev">Blood</journal-id><journal-id journal-id-type="hwp">bloodjournal</journal-id><journal-id journal-id-type="pmc">blood</journal-id><journal-id journal-id-type="publisher-id">Blood</journal-id><journal-title-group><journal-title>Blood</journal-title></journal-title-group><issn pub-type="ppub">0006-4971</issn><issn pub-type="epub">1528-0020</issn><publisher><publisher-name>American Society of Hematology</publisher-name><publisher-loc>Washington, DC</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27084890</article-id><article-id pub-id-type="pmc">5016734</article-id><article-id pub-id-type="publisher-id">2015/688267</article-id><article-id pub-id-type="doi">10.1182/blood-2015-12-688267</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>2</subject><subject>35</subject><subject>37</subject></subj-group><subj-group subj-group-type="heading"><subject>Plenary Paper</subject></subj-group><series-title>Thrombosis and Hemostasis</series-title></article-categories><title-group><article-title>A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Simeoni</surname><given-names>Ilenia</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Stephens</surname><given-names>Jonathan C.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Hu</surname><given-names>Fengyuan</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Deevi</surname><given-names>Sri V. 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rid="aff13">13</xref><xref ref-type="author-notes" rid="fn1">*</xref></contrib><aff id="aff1"><label>1</label>Department of Haematology, University of Cambridge,</aff><aff id="aff2"><label>2</label>National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals, and</aff><aff id="aff3"><label>3</label>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</aff><aff id="aff4"><label>4</label>Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;</aff><aff id="aff5"><label>5</label>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</aff><aff id="aff6"><label>6</label>Department of Haematology, University College London Cancer Institute, London, United Kingdom;</aff><aff id="aff7"><label>7</label>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and</aff><aff id="aff8"><label>8</label>Imperial College Healthcare National Health Service Trust, London, United Kingdom;</aff><aff id="aff9"><label>9</label>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</aff><aff id="aff10"><label>10</label>Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</aff><aff id="aff11"><label>11</label>Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</aff><aff id="aff12"><label>12</label>School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</aff><aff id="aff13"><label>13</label>Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</aff><aff id="aff14"><label>14</label>Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</aff><aff id="aff15"><label>15</label>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</aff><aff id="aff16"><label>16</label>School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia;</aff><aff id="aff17"><label>17</label>Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia;</aff><aff id="aff18"><label>18</label>Office of Population Health Genomics, WA Department of Health, East Perth, Australia;</aff><aff id="aff19"><label>19</label>Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia;</aff><aff id="aff20"><label>20</label>Telethon Kids Institute, Subiaco, Australia;</aff><aff id="aff21"><label>21</label>Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</aff><aff id="aff22"><label>22</label>San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</aff><aff id="aff23"><label>23</label>Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</aff><aff id="aff24"><label>24</label>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</aff><aff id="aff25"><label>25</label>Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</aff><aff id="aff26"><label>26</label>Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</aff><aff id="aff27"><label>27</label>Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</aff><aff id="aff28"><label>28</label>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</aff><aff id="aff29"><label>29</label>Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</aff><aff id="aff30"><label>30</label>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</aff><aff id="aff31"><label>31</label>Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</aff><aff id="aff32"><label>32</label>Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</aff><aff id="aff33"><label>33</label>Cancer Research UK London Research Institute, London, United Kingdom;</aff><aff id="aff34"><label>34</label>Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</aff><aff id="aff35"><label>35</label>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</aff><aff id="aff36"><label>36</label>Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</aff><aff id="aff37"><label>37</label>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</aff><aff id="aff38"><label>38</label>Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</aff><aff id="aff39"><label>39</label>Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</aff><aff id="aff40"><label>40</label>Puget Sound Blood Center, Research Institute, Seattle, WA;</aff><aff id="aff41"><label>41</label>Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</aff><aff id="aff42"><label>42</label>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</aff><aff id="aff43"><label>43</label>Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</aff><aff id="aff44"><label>44</label>Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</aff><aff id="aff45"><label>45</label>Institute of Cancer Research, London, United Kingdom;</aff><aff id="aff46"><label>46</label>Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</aff><aff id="aff47"><label>47</label>University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</aff><aff id="aff48"><label>48</label>Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia;</aff><aff id="aff49"><label>49</label>Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</aff><aff id="aff50"><label>50</label>Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</aff><aff id="aff51"><label>51</label>Children’s Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</aff><aff id="aff52"><label>52</label>Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</aff><aff id="aff53"><label>53</label>Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</aff><aff id="aff54"><label>54</label>Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</aff><aff id="aff55"><label>55</label>School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</aff><aff id="aff56"><label>56</label>Genomics England Limited, London, United Kingdom; and</aff><aff id="aff57"><label>57</label>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</aff></contrib-group><author-notes><fn fn-type="equal" id="fn1"><label>*</label><p>K.G., K.F., W.H.O., and E.T. contributed equally to this study.</p></fn></author-notes><pub-date pub-type="ppub"><day>9</day><month>6</month><year>2016</year></pub-date><pub-date pub-type="epreprint"><day>15</day><month>4</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>9</day><month>6</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>127</volume><issue>23</issue><fpage>2791</fpage><lpage>2803</lpage><history><date date-type="received"><day>24</day><month>12</month><year>2015</year></date><date date-type="accepted"><day>07</day><month>4</month><year>2016</year></date></history><permissions><copyright-statement>© 2016 by The American Society of Hematology</copyright-statement><copyright-year>2016</copyright-year></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="2791.pdf"></self-uri><related-article id="d36e1055" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2016-03-378588">Lentaigne</related-article><related-article id="d36e1057" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2015-10-675629">Stritt</related-article><related-article id="d36e1059" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2016-04-703215">Rao</related-article><abstract abstract-type="teaser"><p><bold>Publisher's Note:</bold> There is an <related-article id="d36e1066" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2016-04-703215">Inside <italic>Blood</italic> Commentary</related-article> on this article in this issue.</p></abstract><abstract abstract-type="executive-summary"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Developed a targeted sequencing platform covering 63 genes linked to heritable bleeding, thrombotic, and platelet disorders.</p></list-item><list-item><p>The ThromboGenomics platform provides a sensitive genetic test to obtain molecular diagnoses in patients with a suspected etiology.</p></list-item></list></p></abstract><abstract><p>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.</p></abstract><counts><page-count count="13"></page-count></counts><custom-meta-group><custom-meta><meta-name>access</meta-name><meta-value>free</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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