Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics

被引：7

作者：

Shuey, Megan M. ^{[1
,2
]}

Stead, William W. ^{[3
]}

Aka, Ida ^{[3
]}

Barnado, April L. ^{[3
]}

Bastarache, Julie A. ^{[1
]}

Brokamp, Elly ^{[2
]}

Campbell, Meredith ^{[4
]}

Carroll, Robert J. ^{[3
]}

Goldstein, Jeffrey A. ^{[5
]}

Lewis, Adam ^{[3
]}

Malow, Beth A. ^{[1
]}

Mosley, Jonathan D. ^{[1
,2
]}

Osterman, Travis ^{[3
]}

Padovani-Claudio, Dolly A. ^{[6
]}

Ramirez, Andrea ^{[7
]}

Roden, Dan M. ^{[1
,2
]}

Schuler, Bryce A. ^{[8
]}

Siew, Edward ^{[1
]}

Sucre, Jennifer ^{[8
]}

Thomsen, Isaac ^{[8
]}

Tinker, Rory J. ^{[8
]}

Van Driest, Sara ^{[7
,8
]}

Walsh, Colin ^{[3
]}

Warner, Jeremy L. ^{[8
]}

Wells, Quinn S. ^{[1
]}

Wheless, Lee ^{[1
]}

Bastarache, Lisa ^{[3
]}

机构：

[1] Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN 37203 USA

[2] Vanderbilt Univ, Vanderbilt Genet Inst, Med Ctr, Nashville, TN 37203 USA

[3] Vanderbilt Univ, Med Ctr, Dept Biomed Informat, Nashville, TN 37203 USA

[4] Virginia Commonwealth Univ, Dept Pediat, Richmond, VA 23219 USA

[5] Northwestern Feinberg Sch Med, Dept Pathol, Chicago, IL 60611 USA

[6] Vanderbilt Univ, Med Ctr, Dept Ophthalmol, Nashville, TN 37232 USA

[7] NIH, All Us Res Program, Bethesda, MD 20892 USA

[8] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37203 USA

来源：

BIOINFORMATICS | 2023年 / 39卷 / 11期

基金：

美国国家卫生研究院;

关键词：

WIDE ASSOCIATION; PHEWAS; DISEASES; RECORD;

D O I：

10.1093/bioinformatics/btad655

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Motivation Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure.Results Here, we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease domains that are under-represented in the current phecode structure-including infectious disease, pregnancy, congenital anomalies, and neonatology-and is a more robust representation of the medical phenome for global use in discovery research.Availability and implementation phecodeX is available at https://github.com/PheWAS/phecodeX.

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页数：5

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