换一批
换一批Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
作者：
Joseph,Park [1]
;
Anastasia M,Lucas [2]
;
Xinyuan,Zhang [3]
;
Kumardeep,Chaudhary [1]
;
Judy H,Cho [3]
;
Girish,Nadkarni [1]
;
Amanda,Dobbyn [3]
;
Geetha,Chittoor [4]
;
Navya S,Josyula [5]
;
Nathan,Katz [6]
;
Joseph H,Breeyear [4]
;
Shadi,Ahmadmehrabi [5]
;
Theodore G,Drivas [6]
;
Venkata R M,Chavali [4]
;
Maria,Fasolino [5]
;
Hisashi,Sawada [6]
;
Alan,Daugherty [4]
;
Yanming,Li [5]
;
Chen,Zhang [6]
;
Yuki,Bradford [7]
;
JoEllen,Weaver [7]
;
Anurag,Verma [2]
;
Renae L,Judy [8]
;
Rachel L,Kember [1]
;
John D,Overton [2]
;
Jeffrey G,Reid [9]
;
Manuel A R,Ferreira [1]
;
Alexander H,Li [10]
;
Aris,Baras [11]
;
Scott A,LeMaire [11]
;
Ying H,Shen [12]
;
Ali,Naji [13]
;
Klaus H,Kaestner [14]
;
Golnaz,Vahedi [13]
;
Todd L,Edwards [14]
;
Jinbo,Chen [1]
;
Scott M,Damrauer [3]
;
Anne E,Justice [15]
;
Ron,Do [1]
;
Marylyn D,Ritchie [3]
;
Daniel J,Rader [16]
作者单位：
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[1]
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[2]
Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[3]
The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[4]
Bio Phenomics Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[5]
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[6]
Department of Population Health Sciences, Geisinger, Danville, PA, USA.
[7]
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
[8]
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[9]
Penn Epigenetics Institute, University of Pennsylvania, Philadelphia, PA, USA.
[10]
Saha Cardiovascular Research Center, University of Kentucky, Lexington, KY, USA.
[11]
Department of Physiology, University of Kentucky, Lexington, KY, USA.
[12]
Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.
[13]
Department of Cardiovascular Surgery, Texas Heart Institute, Houston, TX, USA.
[14]
Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[15]
Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[16]
Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
[17]
Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[18]
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. rader@pennmedicine.upenn.edu.
[19]
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. rader@pennmedicine.upenn.edu.
[20]
Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. rader@pennmedicine.upenn.edu.
[21]
主题词
老年人(Aged);计算生物学(Computational Biology);电子健康病历(Electronic Health Records);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);表型(Phenotype);多态性, 单核苷酸(Polymorphism, Single Nucleotide)
DOI
10.1038/s41591-020-1133-8
PMID
33432171
发布时间
2023-01-17
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Nature medicine
Nature medicine
66-72页
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