Imputation of KIR Types from SNP Variation Data
Identifieur interne : 001551 ( Pmc/Curation ); précédent : 001550; suivant : 001552Imputation of KIR Types from SNP Variation Data
Auteurs : Damjan Vukcevic [Australie] ; James A. Traherne [Royaume-Uni] ; Sigrid N Ss [Norvège] ; Eva Ellinghaus [Allemagne] ; Yoichiro Kamatani [France, Japon] ; Alexander Dilthey [Royaume-Uni] ; Mark Lathrop [Canada, France] ; Tom H. Karlsen [Norvège] ; Andre Franke [Allemagne] ; Miriam Moffatt [Royaume-Uni] ; William Cookson [Royaume-Uni] ; John Trowsdale [Royaume-Uni] ; Gil Mcvean [Royaume-Uni] ; Stephen Sawcer [Royaume-Uni] ; Stephen Leslie [Australie]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2015.
Abstract
Large population studies of immune system genes are essential for characterizing their role in diseases, including autoimmune conditions. Of key interest are a group of genes encoding the killer cell immunoglobulin-like receptors (KIRs), which have known and hypothesized roles in autoimmune diseases, resistance to viruses, reproductive conditions, and cancer. These genes are highly polymorphic, which makes typing expensive and time consuming. Consequently, despite their importance, KIRs have been little studied in large cohorts. Statistical imputation methods developed for other complex loci (e.g., human leukocyte antigen [HLA]) on the basis of SNP data provide an inexpensive high-throughput alternative to direct laboratory typing of these loci and have enabled important findings and insights for many diseases. We present KIR∗IMP, a method for imputation of KIR copy number. We show that KIR∗IMP is highly accurate and thus allows the study of KIRs in large cohorts and enables detailed investigation of the role of KIRs in human disease.
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DOI: 10.1016/j.ajhg.2015.09.005
PubMed: 26430804
PubMed Central: 4596914
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Karlsen</name><affiliation wicri:level="1"><nlm:aff id="aff5">Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff12">K.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Postboks 1171, Blindern, 0318 Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>K.G. 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UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY</wicri:regionArea></affiliation></author><author><name sortKey="Cookson, William" sort="Cookson, William" uniqKey="Cookson W" first="William" last="Cookson">William Cookson</name><affiliation wicri:level="1"><nlm:aff id="aff13">National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY</wicri:regionArea></affiliation></author><author><name sortKey="Trowsdale, John" sort="Trowsdale, John" uniqKey="Trowsdale J" first="John" last="Trowsdale">John Trowsdale</name><affiliation wicri:level="1"><nlm:aff id="aff3">Cambridge Institute for Medical Research, 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Oxford OX3 7BN</wicri:regionArea></affiliation></author><author><name sortKey="Sawcer, Stephen" sort="Sawcer, Stephen" uniqKey="Sawcer S" first="Stephen" last="Sawcer">Stephen Sawcer</name><affiliation wicri:level="1"><nlm:aff id="aff14">Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ</wicri:regionArea></affiliation></author><author><name sortKey="Leslie, Stephen" sort="Leslie, Stephen" uniqKey="Leslie S" first="Stephen" last="Leslie">Stephen Leslie</name><affiliation wicri:level="1"><nlm:aff id="aff1">Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26430804</idno><idno type="pmc">4596914</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596914</idno><idno type="RBID">PMC:4596914</idno><idno type="doi">10.1016/j.ajhg.2015.09.005</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001691</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001691</idno><idno type="wicri:Area/Pmc/Curation">001551</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001551</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Imputation of KIR Types from SNP Variation Data</title><author><name sortKey="Vukcevic, Damjan" sort="Vukcevic, Damjan" uniqKey="Vukcevic D" first="Damjan" last="Vukcevic">Damjan Vukcevic</name><affiliation wicri:level="1"><nlm:aff id="aff1">Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010</wicri:regionArea></affiliation></author><author><name sortKey="Traherne, James A" sort="Traherne, James A" uniqKey="Traherne J" first="James A." last="Traherne">James A. Traherne</name><affiliation wicri:level="1"><nlm:aff id="aff3">Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff4">Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP</wicri:regionArea></affiliation></author><author><name sortKey="N Ss, Sigrid" sort="N Ss, Sigrid" uniqKey="N Ss S" first="Sigrid" last="N Ss">Sigrid N Ss</name><affiliation wicri:level="1"><nlm:aff id="aff5">Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff6">Norwegian PSC Research Center, Division of Cancer, Surgery, and Transplantation, Oslo University Hospital, Postboks 4950, Nydalen, 0424 Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Norwegian PSC Research Center, Division of Cancer, Surgery, and Transplantation, Oslo University Hospital, Postboks 4950, Nydalen, 0424 Oslo</wicri:regionArea></affiliation></author><author><name sortKey="Ellinghaus, Eva" sort="Ellinghaus, Eva" uniqKey="Ellinghaus E" first="Eva" last="Ellinghaus">Eva Ellinghaus</name><affiliation wicri:level="1"><nlm:aff id="aff7">Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel, Schittenhelmstraße 12, 24105 Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel, Schittenhelmstraße 12, 24105 Kiel</wicri:regionArea></affiliation></author><author><name sortKey="Kamatani, Yoichiro" sort="Kamatani, Yoichiro" uniqKey="Kamatani Y" first="Yoichiro" last="Kamatani">Yoichiro Kamatani</name><affiliation wicri:level="1"><nlm:aff id="aff8">Fondation Jean Dausset, Centre d’Etude du Polymorphisme Humain, 27 Rue Juliette Dodu, 75010 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fondation Jean Dausset, Centre d’Etude du Polymorphisme Humain, 27 Rue Juliette Dodu, 75010 Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff9">RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045</wicri:regionArea></affiliation></author><author><name sortKey="Dilthey, Alexander" sort="Dilthey, Alexander" uniqKey="Dilthey A" first="Alexander" last="Dilthey">Alexander Dilthey</name><affiliation wicri:level="1"><nlm:aff id="aff10">Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN</wicri:regionArea></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation wicri:level="1"><nlm:aff id="aff11">McGill University and Génome Québec Innovation Centre, Montreal, 740 Dr. Penfield Avenue, Room 7104, Montreal, QC H3A 0G1, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>McGill University and Génome Québec Innovation Centre, Montreal, 740 Dr. Penfield Avenue, Room 7104, Montreal, QC H3A 0G1</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Fondation Jean Dausset, Centre d’Etude du Polymorphisme Humain, 27 Rue Juliette Dodu, 75010 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fondation Jean Dausset, Centre d’Etude du Polymorphisme Humain, 27 Rue Juliette Dodu, 75010 Paris</wicri:regionArea></affiliation></author><author><name sortKey="Karlsen, Tom H" sort="Karlsen, Tom H" uniqKey="Karlsen T" first="Tom H." last="Karlsen">Tom H. Karlsen</name><affiliation wicri:level="1"><nlm:aff id="aff5">Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff12">K.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Postboks 1171, Blindern, 0318 Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>K.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Postboks 1171, Blindern, 0318 Oslo</wicri:regionArea></affiliation></author><author><name sortKey="Franke, Andre" sort="Franke, Andre" uniqKey="Franke A" first="Andre" last="Franke">Andre Franke</name><affiliation wicri:level="1"><nlm:aff id="aff7">Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel, Schittenhelmstraße 12, 24105 Kiel, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel, Schittenhelmstraße 12, 24105 Kiel</wicri:regionArea></affiliation></author><author><name sortKey="Moffatt, Miriam" sort="Moffatt, Miriam" uniqKey="Moffatt M" first="Miriam" last="Moffatt">Miriam Moffatt</name><affiliation wicri:level="1"><nlm:aff id="aff13">National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY</wicri:regionArea></affiliation></author><author><name sortKey="Cookson, William" sort="Cookson, William" uniqKey="Cookson W" first="William" last="Cookson">William Cookson</name><affiliation wicri:level="1"><nlm:aff id="aff13">National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY</wicri:regionArea></affiliation></author><author><name sortKey="Trowsdale, John" sort="Trowsdale, John" uniqKey="Trowsdale J" first="John" last="Trowsdale">John Trowsdale</name><affiliation wicri:level="1"><nlm:aff id="aff3">Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff4">Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP</wicri:regionArea></affiliation></author><author><name sortKey="Mcvean, Gil" sort="Mcvean, Gil" uniqKey="Mcvean G" first="Gil" last="Mcvean">Gil Mcvean</name><affiliation wicri:level="1"><nlm:aff id="aff10">Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN</wicri:regionArea></affiliation></author><author><name sortKey="Sawcer, Stephen" sort="Sawcer, Stephen" uniqKey="Sawcer S" first="Stephen" last="Sawcer">Stephen Sawcer</name><affiliation wicri:level="1"><nlm:aff id="aff14">Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ</wicri:regionArea></affiliation></author><author><name sortKey="Leslie, Stephen" sort="Leslie, Stephen" uniqKey="Leslie S" first="Stephen" last="Leslie">Stephen Leslie</name><affiliation wicri:level="1"><nlm:aff id="aff1">Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010</wicri:regionArea></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Large population studies of immune system genes are essential for characterizing their role in diseases, including autoimmune conditions. Of key interest are a group of genes encoding the killer cell immunoglobulin-like receptors (KIRs), which have known and hypothesized roles in autoimmune diseases, resistance to viruses, reproductive conditions, and cancer. These genes are highly polymorphic, which makes typing expensive and time consuming. Consequently, despite their importance, KIRs have been little studied in large cohorts. Statistical imputation methods developed for other complex loci (e.g., human leukocyte antigen [HLA]) on the basis of SNP data provide an inexpensive high-throughput alternative to direct laboratory typing of these loci and have enabled important findings and insights for many diseases. We present KIR<sup>∗</sup>IMP, a method for imputation of KIR copy number. We show that KIR<sup>∗</sup>IMP is highly accurate and thus allows the study of KIRs in large cohorts and enables detailed investigation of the role of KIRs in human disease.</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">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26430804</article-id><article-id pub-id-type="pmc">4596914</article-id><article-id pub-id-type="publisher-id">S0002-9297(15)00369-9</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2015.09.005</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Imputation of KIR Types from SNP Variation Data</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Vukcevic</surname><given-names>Damjan</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Traherne</surname><given-names>James A.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Næss</surname><given-names>Sigrid</given-names></name><xref rid="aff5" ref-type="aff">5</xref><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Ellinghaus</surname><given-names>Eva</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Kamatani</surname><given-names>Yoichiro</given-names></name><xref rid="aff8" ref-type="aff">8</xref><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Dilthey</surname><given-names>Alexander</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Lathrop</surname><given-names>Mark</given-names></name><xref rid="aff11" ref-type="aff">11</xref><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Karlsen</surname><given-names>Tom H.</given-names></name><xref rid="aff5" ref-type="aff">5</xref><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Franke</surname><given-names>Andre</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Moffatt</surname><given-names>Miriam</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Cookson</surname><given-names>William</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Trowsdale</surname><given-names>John</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>McVean</surname><given-names>Gil</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Sawcer</surname><given-names>Stephen</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Leslie</surname><given-names>Stephen</given-names></name><email>stephen.leslie@mcri.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia</aff><aff id="aff2"><label>2</label>School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010, Australia</aff><aff id="aff3"><label>3</label>Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK</aff><aff id="aff4"><label>4</label>Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</aff><aff id="aff5"><label>5</label>Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo, Norway</aff><aff id="aff6"><label>6</label>Norwegian PSC Research Center, Division of Cancer, Surgery, and Transplantation, Oslo University Hospital, Postboks 4950, Nydalen, 0424 Oslo, Norway</aff><aff id="aff7"><label>7</label>Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel, Schittenhelmstraße 12, 24105 Kiel, Germany</aff><aff id="aff8"><label>8</label>Fondation Jean Dausset, Centre d’Etude du Polymorphisme Humain, 27 Rue Juliette Dodu, 75010 Paris, France</aff><aff id="aff9"><label>9</label>RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan</aff><aff id="aff10"><label>10</label>Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK</aff><aff id="aff11"><label>11</label>McGill University and Génome Québec Innovation Centre, Montreal, 740 Dr. Penfield Avenue, Room 7104, Montreal, QC H3A 0G1, Canada</aff><aff id="aff12"><label>12</label>K.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Postboks 1171, Blindern, 0318 Oslo, Norway</aff><aff id="aff13"><label>13</label>National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY, UK</aff><aff id="aff14"><label>14</label>Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>stephen.leslie@mcri.edu.au</email></corresp></author-notes><pub-date pub-type="ppub"><day>01</day><month>10</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>01</day><month>10</month><year>2015</year></pub-date><volume>97</volume><issue>4</issue><fpage>593</fpage><lpage>607</lpage><history><date date-type="received"><day>20</day><month>4</month><year>2015</year></date><date date-type="accepted"><day>8</day><month>9</month><year>2015</year></date></history><permissions><copyright-statement>© 2015 The Authors</copyright-statement><copyright-year>2015</copyright-year><license license-type="CC BY" xlink:href="http://creativecommons.org/licenses/by/4.0/"><license-p>This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).</license-p></license></permissions><abstract><p>Large population studies of immune system genes are essential for characterizing their role in diseases, including autoimmune conditions. Of key interest are a group of genes encoding the killer cell immunoglobulin-like receptors (KIRs), which have known and hypothesized roles in autoimmune diseases, resistance to viruses, reproductive conditions, and cancer. These genes are highly polymorphic, which makes typing expensive and time consuming. Consequently, despite their importance, KIRs have been little studied in large cohorts. Statistical imputation methods developed for other complex loci (e.g., human leukocyte antigen [HLA]) on the basis of SNP data provide an inexpensive high-throughput alternative to direct laboratory typing of these loci and have enabled important findings and insights for many diseases. We present KIR<sup>∗</sup>IMP, a method for imputation of KIR copy number. We show that KIR<sup>∗</sup>IMP is highly accurate and thus allows the study of KIRs in large cohorts and enables detailed investigation of the role of KIRs in human disease.</p></abstract></article-meta><notes><p id="misc0010">Published: October 1, 2015</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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