Article
Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.
Genome biology - 9 Sept 2025
Selvaraj Margaret Sunitha, Li Xihao, Li Zilin, Van Buren Eric, Haidermota Sara, Postupaka Darina, Hornsby Whitney, Bis Joshua C, Brody Jennifer A, Cade Brian E, Chung Ren-Hua, Curran Joanne E, Damrauer Scott M, de Las Fuentes Lisa, de Vries Paul S, Duggirala Ravindranath, Freedman Barry I, Graff MariaElisa, Guo Xiuqing, Hidalgo Bertha A, Hou Lifang, Irvin Ryan, Judy Renae, Kalyani Rita R, Kelly Tanika N, Konigsberg Iain R, Kral Brian G, Kwee Lydia Coulter, Levy Daniel, Li Changwei, Manichaikul Ani W, Martin Lisa Warsinger, Montasser May E, Morrison Alanna C, Naseri Take, North Kari E, O'Connell Jeffrey R, Palmer Nicholette D, Peyser Patricia A, Reiner Alex P, Shah Svati H, Smit Roelof A J, Smith Jennifer A, Taylor Kent D, Tiwari Hemant, Tsai Michael Y, Viali Satupa'itea, Wang Zhe, Wang Yuxuan, Zhao Wei, Arnett Donna K, Blangero John, Boerwinkle Eric, Bowden Donald W, Carlson Jenna C, Chen Yii-Der Ida, Ellinor Patrick T, Fornage Myriam, He Jiang, Heard-Costa Nancy, Kaplan Robert C, Kardia Sharon L R, Kooperberg Charles, Kraus William E, Lange Leslie A, Loos Ruth J F, Mitchell Braxton D, Psaty Bruce M, Rader Daniel J, Redline Susan, Rich Stephen S, Yanek Lisa R, Gibbs Richard, Gabriel Stacey, Viaud-Martinez Karine A, Dutcher Susan K, Germer Soren, Kim Ryan, Rotter Jerome I, Lin Xihong, Peloso Gina M, Natarajan Pradeep
Abstract excerpt
BACKGROUND: Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association...
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