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The Metabochip,a Custom Genotyping Array for Genetic Studies of Metabolic,Cardiovascular,and Anthropometric Traits
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نویسنده
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voight b.f. ,kang h.m. ,ding j. ,palmer c.d. ,sidore c. ,chines p.s. ,burtt n.p. ,fuchsberger c. ,li y. ,erdmann j. ,frayling t.m. ,heid i.m. ,jackson a.u. ,johnson t. ,kilpeläinen t.o. ,lindgren c.m. ,morris a.p. ,prokopenko i. ,randall j.c. ,saxena r. ,soranzo n. ,speliotes e.k. ,teslovich t.m. ,wheeler e. ,maguire j. ,parkin m. ,potter s. ,rayner n.w. ,robertson n. ,stirrups k. ,winckler w. ,sanna s. ,mulas a. ,nagaraja r. ,cucca f. ,barroso i. ,deloukas p. ,loos r.j.f. ,kathiresan s. ,munroe p.b. ,newton-cheh c. ,pfeufer a. ,samani n.j. ,schunkert h. ,hirschhorn j.n. ,altshuler d. ,mccarthy m.i. ,abecasis g.r. ,boehnke m.
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منبع
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plos genetics - 2012 - دوره : 8 - شماره : 8
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چکیده
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Genome-wide association studies have identified hundreds of loci for type 2 diabetes,coronary artery disease and myocardial infarction,as well as for related traits such as body mass index,glucose and insulin levels,lipid levels,and blood pressure. these studies also have pointed to thousands of loci with promising but not yet compelling association evidence. to establish association at additional loci and to characterize the genome-wide significant loci by fine-mapping,we designed the metabochip, a custom genotyping array that assays nearly 200,000 snp markers. here,we describe the metabochip and its component snp sets,evaluate its performance in capturing variation across the allele-frequency spectrum,describe solutions to methodological challenges commonly encountered in its analysis,and evaluate its performance as a platform for genotype imputation. the metabochip achieves dramatic cost efficiencies compared to designing single-trait follow-up reagents,and provides the opportunity to compare results across a range of related traits. the metabochip and similar custom genotyping arrays offer a powerful and cost-effective approach to follow-up large-scale genotyping and sequencing studies and advance our understanding of the genetic basis of complex human diseases and traits. © 2012 voight et al.
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آدرس
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medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma,united states,department of pharmacology,university of pennsylvania perelman school of medicine,philadelphia,pa, United States, department of biostatistics,center for statistical genetics,university of michigan,ann arbor,mi, United States, laboratory of genetics,national institute on aging,national institutes of health,baltimore,md, United States, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma,united states,divisions of endocrinology and genetics and program in genomics,children's hospital,boston,ma, United States, department of biostatistics,center for statistical genetics,university of michigan,ann arbor,mi,united states,istituto di ricerca genetica e biomedica,consiglio nazionale delle ricerche (cnr),monserrato,italy,dipartimento di scienze biomediche,università di sassari,sassari, Italy, genome technology branch,national human genome research institute,bethesda,md, United States, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma, United States, department of biostatistics,center for statistical genetics,university of michigan,ann arbor,mi, United States, department of biostatistics,center for statistical genetics,university of michigan,ann arbor,mi, United States, universität zu lübeck,medizinische klinik ii,and nordic center of cardiovascular research,lübeck, Germany, genetics of complex traits,peninsula college of medicine and dentistry,university of exeter,exeter, United Kingdom, department of epidemiology and preventive medicine,university hospital regensburg,regensburg,germany,helmholtz zentrum münchen-german research center for environmental health,institute of epidemiology,neuherberg, Germany, department of biostatistics,center for statistical genetics,university of michigan,ann arbor,mi, United States, clinical pharmacology and barts and the london genome centre,william harvey research institute,barts and the london school of medicine,queen mary university of london,london, United Kingdom, mrc epidemiology unit,institute of metabolic science,addenbrooke's hospital,cambridge, United Kingdom, wellcome trust centre for human genetics,university of oxford,oxford, United Kingdom, wellcome trust centre for human genetics,university of oxford,oxford, United Kingdom, wellcome trust centre for human genetics,university of oxford,oxford,united kingdom,oxford centre for diabetes,endocrinology,and metabolism,churchill hospital,university of oxford,oxford, United Kingdom, wellcome trust centre for human genetics,university of oxford,oxford, United Kingdom, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma,united states,center for human genetic research,massachusetts general hospital,boston,ma,united states,department of anesthesia,critical care and pain medicine,massachusetts general hospital,boston,ma, United States, wellcome trust sanger institute,hinxton,cambridge, United Kingdom, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma,united states,department of internal medicine,division of gastroenterology and center for computational medicine and bioinformatics,university of michigan,ann arbor,mi, United States, department of biostatistics,center for statistical genetics,university of michigan,ann arbor,mi, United States, wellcome trust sanger institute,hinxton,cambridge, United Kingdom, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma, United States, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma, United States, wellcome trust sanger institute,hinxton,cambridge, United Kingdom, wellcome trust centre for human genetics,university of oxford,oxford,united kingdom,oxford centre for diabetes,endocrinology,and metabolism,churchill hospital,university of oxford,oxford,united kingdom,wellcome trust sanger institute,hinxton,cambridge, United Kingdom, wellcome trust centre for human genetics,university of oxford,oxford,united kingdom,oxford centre for diabetes,endocrinology,and metabolism,churchill hospital,university of oxford,oxford, United Kingdom, wellcome trust sanger institute,hinxton,cambridge, United Kingdom, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma, United States, istituto di ricerca genetica e biomedica,consiglio nazionale delle ricerche (cnr),monserrato, Italy, istituto di ricerca genetica e biomedica,consiglio nazionale delle ricerche (cnr),monserrato, Italy, laboratory of genetics,national institute on aging,national institutes of health,baltimore,md, United States, istituto di ricerca genetica e biomedica,consiglio nazionale delle ricerche (cnr),monserrato,italy,dipartimento di scienze biomediche,università di sassari,sassari, Italy, wellcome trust sanger institute,hinxton,cambridge,united kingdom,university of cambridge metabolic research laboratories,institute of metabolic science,addenbrooke's hospital,cambridge, United Kingdom, wellcome trust sanger institute,hinxton,cambridge, United Kingdom, mrc epidemiology unit,institute of metabolic science,addenbrooke's hospital,cambridge, United Kingdom, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma,united states,center for human genetic research,massachusetts general hospital,boston,ma,united states,cardiovascular research center and cardiology division,massachusetts general hospital,boston,ma,united states,department of medicine,harvard medical school,boston,ma, United States, clinical pharmacology and barts and the london genome centre,william harvey research institute,barts and the london school of medicine,queen mary university of london,london, United Kingdom, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma,united states,center for human genetic research,massachusetts general hospital,boston,ma,united states,cardiovascular research center and cardiology division,massachusetts general hospital,boston,ma,united states,department of medicine,harvard medical school,boston,ma, United States, institute of human genetics,klinikum rechts der isar technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen,deutsches forschungszentrum für gesundheit und umwelt,neuherberg,germany,eurac center of biomedicine,bolzano, Italy, department of cardiovascular sciences,glenfield hospital,university of leicester,leicester,united kingdom,leicester nihr biomedical research unit in coronary artery disease,glenfield hospital,leicester, United Kingdom, universität zu lübeck,medizinische klinik ii,and nordic center of cardiovascular research,lübeck, Germany, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma,united states,divisions of endocrinology and genetics and program in genomics,children's hospital,boston,ma,united states,department of genetics,harvard medical school,boston,ma, United States, medical population genetics,the broad institute of harvard and massachusetts institute of technology,cambridge,ma,united states,center for human genetic research,massachusetts general hospital,boston,ma,united states,department of medicine,harvard medical school,boston,ma,united states,department of genetics,harvard medical school,boston,ma,united states,department of molecular biology,harvard medical school,boston,ma,united states,diabetes unit,massachusetts general hospital,boston,ma, United States, wellcome trust centre for human genetics,university of oxford,oxford,united kingdom,oxford centre for diabetes,endocrinology,and metabolism,churchill hospital,university of oxford,oxford,united kingdom,oxford nihr biomedical research centre,churchill hospital,oxford, United Kingdom, department of biostatistics,center for statistical genetics,university of michigan,ann arbor,mi, United States, department of biostatistics,center for statistical genetics,university of michigan,ann arbor,mi, United States
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Authors
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