eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.

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第一作者： Anurag,Verma

第一单位： Department of Biochemistry and Molecular Biology, Center for Systems Genomics, Pennsylvania State University, University Park, PA, USA. anurag.verma@psu.edu.

作者： Anurag,Verma ^[1] ; Shefali S,Verma ^[2] ; Sarah A,Pendergrass ^[3] ; Dana C,Crawford ^[4] ; David R,Crosslin ^[5] ; Helena,Kuivaniemi ^[6] ; William S,Bush ^[7] ; Yuki,Bradford ^[8] ; Iftikhar,Kullo ^[6] ; Suzette J,Bielinski ^[9] ; Rongling,Li ^[10] ; Joshua C,Denny ^[10] ; Peggy,Peissig ^[11] ; Scott,Hebbring ^[12] ; Mariza,De Andrade ^[13] ; Marylyn D,Ritchie ^[13] ; Gerard,Tromp ^[10]

作者单位： Department of Biochemistry and Molecular Biology, Center for Systems Genomics, Pennsylvania State University, University Park, PA, USA. anurag.verma@psu.edu. ^[1] Biomedical and Translational Informatics, Geisinger Health System, Danville, PA, USA. anurag.verma@psu.edu. ^[2] Department of Biochemistry and Molecular Biology, Center for Systems Genomics, Pennsylvania State University, University Park, PA, USA. szs14@psu.edu. ^[3] Biomedical and Translational Informatics, Geisinger Health System, Danville, PA, USA. szs14@psu.edu. ^[4] Biomedical and Translational Informatics, Geisinger Health System, Danville, PA, USA. ^[5] Case Western Reserve University, Cleveland, OH, USA. ^[6] Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA. ^[7] Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, 7505, South Africa. ^[8] Department of Biochemistry and Molecular Biology, Center for Systems Genomics, Pennsylvania State University, University Park, PA, USA. ^[9] Mayo Clinic, Rochester, MN, USA. ^[10] National Human Genome Research Institute, Bethesda, MD, USA. ^[11] Vanderbilt University, Nashville, TN, USA. ^[12] Marshfield Clinic, Marshfield, WI, USA. ^[13]

主题词成年人(Adult);人口统计学(Demography);电子健康病历(Electronic Health Records);基因多效性(Genetic Pleiotropy);全基因组关联研究(Genome-Wide Association Study);人类(Humans);表型(Phenotype);多态性, 单核苷酸(Polymorphism, Single Nucleotide)

DOI 10.1186/s12920-016-0191-8

PMID 27535653

发布时间 2022-03-16

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BMC medical genomics

2016年9 Suppl 1卷

32页

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eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.

BMC medical genomics

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eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.

BMC medical genomics

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BMC medical genomics

相关期刊

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