Article
A System for Phenotype Harmonization in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Program.
American journal of epidemiology - 1 Oct 2021
Stilp Adrienne M, Emery Leslie S, Broome Jai G, Buth Erin J, Khan Alyna T, Laurie Cecelia A, Wang Fei Fei, Wong Quenna, Chen Dongquan, D'Augustine Catherine M, Heard-Costa Nancy L, Hohensee Chancellor R, Johnson William Craig, Juarez Lucia D, Liu Jingmin, Mutalik Karen M, Raffield Laura M, Wiggins Kerri L, de Vries Paul S, Kelly Tanika N, Kooperberg Charles, Natarajan Pradeep, Peloso Gina M, Peyser Patricia A, Reiner Alex P, Arnett Donna K, Aslibekyan Stella, Barnes Kathleen C, Bielak Lawrence F, Bis Joshua C, Cade Brian E, Chen Ming-Huei, Correa Adolfo, Cupples L Adrienne, de Andrade Mariza, Ellinor Patrick T, Fornage Myriam, Franceschini Nora, Gan Weiniu, Ganesh Santhi K, Graffelman Jan, Grove Megan L, Guo Xiuqing, Hawley Nicola L, Hsu Wan-Ling, Jackson Rebecca D, Jaquish Cashell E, Johnson Andrew D, Kardia Sharon L R, Kelly Shannon, Lee Jiwon, Mathias Rasika A, McGarvey Stephen T, Mitchell Braxton D, Montasser May E, Morrison Alanna C, North Kari E, Nouraie Seyed Mehdi, Oelsner Elizabeth C, Pankratz Nathan, Rich Stephen S, Rotter Jerome I, Smith Jennifer A, Taylor Kent D, Vasan Ramachandran S, Weeks Daniel E, Weiss Scott T, Wilson Carla G, Yanek Lisa R, Psaty Bruce M, Heckbert Susan R, Laurie Cathy C
Abstract excerpt
Genotype-phenotype association studies often combine phenotype data from multiple studies to increase statistical power. Harmonization of the data usually requires substantial effort due to heterogeneity in phenotype definitions, study design, data collection procedures, and data-set organization. Here we describe a centralized system for phenotype harmonization that includes input from phenotype domain and study...
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