학술논문
Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data
Document Type
article
Author
He, Karen Y; Li, Xiaoyin; Kelly, Tanika N; Liang, Jingjing; Cade, Brian E; Assimes, Themistocles L; Becker, Lewis C; Beitelshees, Amber L; Bress, Adam P; Chang, Yen-Pei Christy; Chen, Yii-Der Ida; de Vries, Paul S; Fox, Ervin R; Franceschini, Nora; Furniss, Anna; Gao, Yan; Guo, Xiuqing; Haessler, Jeffrey; Hwang, Shih-Jen; Irvin, Marguerite Ryan; Kalyani, Rita R; Liu, Ching-Ti; Liu, Chunyu; Martin, Lisa Warsinger; Montasser, May E; Muntner, Paul M; Mwasongwe, Stanford; Palmas, Walter; Reiner, Alex P; Shimbo, Daichi; Smith, Jennifer A; Snively, Beverly M; Yanek, Lisa R; Boerwinkle, Eric; Correa, Adolfo; Cupples, L Adrienne; He, Jiang; Kardia, Sharon LR; Kooperberg, Charles; Mathias, Rasika A; Mitchell, Braxton D; Psaty, Bruce M; Vasan, Ramachandran S; Rao, DC; Rich, Stephen S; Rotter, Jerome I; Wilson, James G; Chakravarti, Aravinda; Morrison, Alanna C; Levy, Daniel; Arnett, Donna K; Redline, Susan; Zhu, Xiaofeng
Source
Human Genetics. 138(2)
Subject
Language
Abstract
In this study, we investigated low-frequency and rare variants associated with blood pressure (BP) by focusing on a linkage region on chromosome 16p13. We used whole genome sequencing (WGS) data obtained through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program on 395 Cleveland Family Study (CFS) European Americans (CFS-EA). By analyzing functional coding variants and non-coding rare variants with CADD score > 10 residing within the chromosomal region in families with linkage evidence, we observed 25 genes with nominal statistical evidence (burden or SKAT p