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Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project.

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第一作者： Adam C,Naj

第一单位： Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: adamnaj@pennmedicine.upenn.edu.

作者： Adam C,Naj ^[1] ; Honghuang,Lin ^[2] ; Badri N,Vardarajan ^[3] ; Simon,White ^[4] ; Daniel,Lancour ^[5] ; Yiyi,Ma ^[5] ; Michael,Schmidt ^[6] ; Fangui,Sun ^[7] ; Mariusz,Butkiewicz ^[8] ; William S,Bush ^[8] ; Brian W,Kunkle ^[6] ; John,Malamon ^[9] ; Najaf,Amin ^[10] ; Seung Hoan,Choi ^[7] ; Kara L,Hamilton-Nelson ^[6] ; Sven J,van der Lee ^[10] ; Namrata,Gupta ^[11] ; Daniel C,Koboldt ^[12] ; Mohamad,Saad ^[13] ; Bowen,Wang ^[14] ; Alejandro Q,Nato ^[15] ; Harkirat K,Sohi ^[15] ; Amanda,Kuzma ^[9] ; Alzheimer's Disease Sequencing Project (ADSP) ^[9] ; Li-San,Wang ^[16] ; L Adrienne,Cupples ^[10] ; Cornelia,van Duijn ^[17] ; Sudha,Seshadri ^[9] ; Gerard D,Schellenberg ^[18] ; Eric,Boerwinkle ^[19] ; Joshua C,Bis ^[16] ; Josée,Dupuis ^[4] ; William J,Salerno ^[13] ; Ellen M,Wijsman ^[6] ; Eden R,Martin ^[20] ; Anita L,DeStefano

作者单位： Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: adamnaj@pennmedicine.upenn.edu. ^[1] Department of Medicine, Boston University School of Medicine, Boston, MA, USA. ^[2] Department of Neurology, Columbia University Medical Center, New York, NY, USA. ^[3] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. ^[4] Department of Biomedical Genetics, Boston University School of Medicine, Boston, MA, USA. ^[5] John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA. ^[6] Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA. ^[7] Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA. ^[8] Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. ^[9] Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. ^[10] Medical and Population Genetics Program, Broad Institute, Cambridge, MA, USA. ^[11] Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA. ^[12] Department of Biostatistics, University of Washington, Seattle, WA, USA; Division of Medical Genetics, University of Washington, Seattle, WA, USA. ^[13] Department of Statistics, University of Washington, Seattle, WA, USA. ^[14] Division of Medical Genetics, University of Washington, Seattle, WA, USA. ^[15] Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA; The Framingham Heart Study, Framingham, MA, USA. ^[16] The Framingham Heart Study, Framingham, MA, USA; Department of Neurology, Boston University School of Medicine, Boston, MA, USA. ^[17] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, University of Texas Health Science Center, Houston, TX, USA. ^[18] Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA. ^[19] Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA; The Framingham Heart Study, Framingham, MA, USA; Department of Neurology, Boston University School of Medicine, Boston, MA, USA. ^[20]

关键词 Atlas Consensus calling GATK Mendelian inconsistencies Quality control Whole genome sequencing

医学主题词算法(Algorithms);阿尔茨海默病(Alzheimer Disease);女(雌)性(Female);全基因组关联研究(Genome-Wide Association Study);基因型(Genotype);人类(Humans);男(雄)性(Male);多态现象, 遗传(Polymorphism, Genetic);质量控制(Quality Control)

DOI 10.1016/j.ygeno.2018.05.004

PMID 29857119

发布时间 2024-05-08

基金项目

R01 AG054060/AG/NIA NIH HHS/United States R01 AG054076/AG/NIA NIH HHS/United States U54 HG003067/HG/NHGRI NIH HHS/United States U24 AG021886/AG/NIA NIH HHS/United States P50 AG008702/AG/NIA NIH HHS/United States U01 AG016976/AG/NIA NIH HHS/United States P50 AG005136/AG/NIA NIH HHS/United States R01 HL105756/HL/NHLBI NIH HHS/United States U24 AG041689/AG/NIA NIH HHS/United States R01 AG033193/AG/NIA NIH HHS/United States HHSN268201100009C/HL/NHLBI NIH HHS/United States P30 AG010129/AG/NIA NIH HHS/United States HHSN268201100006C/HL/NHLBI NIH HHS/United States HHSN268201100010C/HL/NHLBI NIH HHS/United States U01 AG049505/AG/NIA NIH HHS/United States HHSN268201100008C/HL/NHLBI NIH HHS/United States RC2 HL102419/HL/NHLBI NIH HHS/United States U01 AG058654/AG/NIA NIH HHS/United States U54 AG052427/AG/NIA NIH HHS/United States R01 NS017950/NS/NINDS NIH HHS/United States HHSN268201100007C/HL/NHLBI NIH HHS/United States U24 AG072122/AG/NIA NIH HHS/United States U01 AG049507/AG/NIA NIH HHS/United States U01 AG032984/AG/NIA NIH HHS/United States HHSN268201100011C/HL/NHLBI NIH HHS/United States UF1 AG047133/AG/NIA NIH HHS/United States U54 HG003273/HG/NHGRI NIH HHS/United States HHSN268201100012C/HL/NHLBI NIH HHS/United States U01 AG049508/AG/NIA NIH HHS/United States HHSN268201100005C/HL/NHLBI NIH HHS/United States U01 AG062602/AG/NIA NIH HHS/United States P30 AG066546/AG/NIA NIH HHS/United States U54 HG003079/HG/NHGRI NIH HHS/United States U01 AG052409/AG/NIA NIH HHS/United States

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