Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

被引：0

作者：

Joshua C Denny

Lisa Bastarache

Marylyn D Ritchie

Robert J Carroll

Raquel Zink

Jonathan D Mosley

Julie R Field

Jill M Pulley

Andrea H Ramirez

Erica Bowton

Melissa A Basford

David S Carrell

Peggy L Peissig

Abel N Kho

Jennifer A Pacheco

Luke V Rasmussen

David R Crosslin

Paul K Crane

Jyotishman Pathak

Suzette J Bielinski

Sarah A Pendergrass

Hua Xu

Lucia A Hindorff

Rongling Li

Teri A Manolio

Christopher G Chute

Rex L Chisholm

Eric B Larson

Gail P Jarvik

Murray H Brilliant

Catherine A McCarty

Iftikhar J Kullo

Jonathan L Haines

Dana C Crawford

Daniel R Masys

Dan M Roden

机构：

[1] Vanderbilt University School of Medicine,Department of Medicine

[2] Vanderbilt University School of Medicine,Department of Biomedical Informatics

[3] Center for Systems Genomics,Department of Biochemistry and Molecular Biology

[4] The Pennsylvania State University,Department of Medical Administration

[5] University Park,Department of Medicine

[6] Office of Research,Department of Preventative Medicine

[7] Vanderbilt University School of Medicine,Department of Genome Sciences

[8] Vanderbilt University School of Medicine,Department of Medicine

[9] Group Health Research Institute,Divisions of Biomedical Informatics and Statistics

[10] Biomedical Informatics Research Center,Division of Epidemiology

[11] Marshfield Clinic Research Foundation,Division of Genomic Medicine

[12] Feinberg School of Medicine,Department of Cell and Molecular Biology

[13] Northwestern University,Division of Cardiovascular Diseases

[14] Center for Genetic Medicine,Department of Molecular Physiology and Biophysics

[15] Feinberg School of Medicine,Department of Biomedical Informatics and Medical Education

[16] Northwestern University,Department of Pharmacology

[17] Feinberg School of Medicine,undefined

[18] Northwestern University,undefined

[19] University of Washington,undefined

[20] University of Washington,undefined

[21] Mayo Clinic,undefined

[22] Mayo Clinic,undefined

[23] School of Biomedical Informatics,undefined

[24] The University of Texas Health Science Center at Houston,undefined

[25] National Human Genome Research Institute,undefined

[26] Feinberg School of Medicine,undefined

[27] Northwestern University,undefined

[28] Center for Human Genetics,undefined

[29] Marshfield Clinic Research Foundation,undefined

[30] Essentia Institute for Rural Health,undefined

[31] Mayo Clinic,undefined

[32] Center for Human Genetics Research,undefined

[33] Vanderbilt University School of Medicine,undefined

[34] University of Washington,undefined

[35] Vanderbilt University School of Medicine,undefined

来源：

Nature Biotechnology | 2013年 / 31卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

When applied in large scale to electronic medical record data, the PheWAS approach replicates GWAS associations and reveals potentially new pleiotropic associations.

引用

页码：1102 / 1111

页数：9

共 50 条

[1] Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
Denny, Joshua C.
Bastarache, Lisa
Ritchie, Marylyn D.
Carroll, Robert J.
Zink, Raquel
Mosley, Jonathan D.
Field, Julie R.
Pulley, Jill M.
Ramirez, Andrea H.
Bowton, Erica
Basford, Melissa A.
Carrell, David S.
Peissig, Peggy L.
Kho, Abel N.
Pacheco, Jennifer A.
Rasmussen, Luke V.
Crosslin, David R.
Crane, Paul K.
Pathak, Jyotishman
Bielinski, Suzette J.
Pendergrass, Sarah A.
Xu, Hua
Hindorff, Lucia A.
Li, Rongling
Manolio, Teri A.
Chute, Christopher G.
Chisholm, Rex L.
Larson, Eric B.
Jarvik, Gail P.
Brilliant, Murray H.
McCarty, Catherine A.
Kullo, Iftikhar J.
Haines, Jonathan L.
Crawford, Dana C.
Masys, Daniel R.
Roden, Dan M.
[J]. NATURE BIOTECHNOLOGY, 2013, 31 (12) : 1102 - +
[2] Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study
Dofuku, Shogo
Sonehara, Kyuto
Miyawaki, Satoru
Sakaue, Saori
Imai, Hideaki
Shimizu, Masahiro
Hongo, Hiroki
Shinya, Yuki
Ohara, Kenta
Teranishi, Yu
Okano, Atsushi
Ono, Hideaki
Nakatomi, Hirofumi
Teraoka, Akira
Yamamoto, Kenichi
Maeda, Yuichi
Nii, Takuro
Kishikawa, Toshihiro
Suzuki, Ken
Hirata, Jun
Takahashi, Meiko
Matsuda, Koichi
Kumanogoh, Atsushi
Matsuda, Fumihiko
Okada, Yukinori
Saito, Nobuhito
[J]. TRANSLATIONAL STROKE RESEARCH, 2023, 14 (03) : 322 - 333
[3] Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study
Shogo Dofuku
Kyuto Sonehara
Satoru Miyawaki
Saori Sakaue
Hideaki Imai
Masahiro Shimizu
Hiroki Hongo
Yuki Shinya
Kenta Ohara
Yu Teranishi
Atsushi Okano
Hideaki Ono
Hirofumi Nakatomi
Akira Teraoka
Kenichi Yamamoto
Yuichi Maeda
Takuro Nii
Toshihiro Kishikawa
Ken Suzuki
Jun Hirata
Meiko Takahashi
Koichi Matsuda
Atsushi Kumanogoh
Fumihiko Matsuda
Yukinori Okada
Nobuhito Saito
[J]. Translational Stroke Research, 2023, 14 : 322 - 333
[4] From Genome-Wide Association Study to Phenome-Wide Association Study: New Paradigms in Obesity Research
Zhang, Y. -P.
Zhang, Y. -Y.
Duan, D. D.
[J]. GENETICS OF MONOGENIC AND SYNDROMIC OBESITY, 2016, 140 : 185 - 231
[5] Phenome-wide Study of Electronic Medical Record Data Reveals Novel Association of Natriuretic Peptide A Genetic Variant With Rheumatoid Arthritis
Pereira, Naveen
Jenkins, Gregory
Kullo, Ifthikar
Bielinski, Suzette
Burnett, John
Pathak, Jyotishman
[J]. CIRCULATION, 2015, 132
[6] Joy of Ping-Pong: Genome-Wide and Phenome-Wide Association Studies
Park, Heung-Woo
[J]. ALLERGY ASTHMA & IMMUNOLOGY RESEARCH, 2020, 12 (05) : 748 - 749
[7] Phenome-Wide Association Studies
Bastarache, Lisa
Denny, Joshua C.
Roden, Dan M.
[J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2022, 327 (01): : 75 - 76
[8] Genome-wide association study of hyperthyroidism based on electronic medical record from Taiwan
Liu, Ting-Yuan
Liao, Wen-Ling
Wang, Tzu-Yuan
Chan, Chia-Jung
Chang, Jan-Gowth
Chen, Yu-Chia
Lu, Hsing-Fang
Yang, Hsien-Hui
Chen, Shih-Yin
Tsai, Fuu-Jen
[J]. FRONTIERS IN MEDICINE, 2022, 9
[9] A phenome-wide association study of ABO blood groups
Shun Li
C. M. Schooling
[J]. BMC Medicine, 18
[10] A phenome-wide association study of ABO blood groups
Li, Shun
Schooling, C. M.
[J]. BMC MEDICINE, 2020, 18 (01)

← 1 2 3 4 5 →