Article
Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.
Nature communications - 3 Oct 2024
Hawkes Gareth, Beaumont Robin N, Li Zilin, Mandla Ravi, Li Xihao, Albert Christine M, Arnett Donna K, Ashley-Koch Allison E, Ashrani Aneel A, Barnes Kathleen C, Boerwinkle Eric, Brody Jennifer A, Carson April P, Chami Nathalie, Chen Yii-Der Ida, Chung Mina K, Curran Joanne E, Darbar Dawood, Ellinor Patrick T, Fornage Myrian, Gordeuk Victor R, Guo Xiuqing, He Jiang, Hwu Chii-Min, Kalyani Rita R, Kaplan Robert, Kardia Sharon L R, Kooperberg Charles, Loos Ruth J F, Lubitz Steven A, Minster Ryan L, Naseri Take, Viali Satupa'itea, Mitchell Braxton D, Murabito Joanne M, Palmer Nicholette D, Psaty Bruce M, Redline Susan, Shoemaker M Benjamin, Silverman Edwin K, Telen Marilyn J, Weiss Scott T, Yanek Lisa R, Zhou Hufeng, Liu Ching-Ti, North Kari E, Justice Anne E, Locke Jonathan M, Owens Nick, Murray Anna, Patel Kashyap, Frayling Timothy M, Wright Caroline F, Wood Andrew R, Lin Xihong, Manning Alisa, Weedon Michael N
Abstract excerpt
The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100 individuals from three datasets: UK Biobank (N = 200,003), TOPMed (N = 87,652) and All of Us (N = 45,445). We performed rare ( < 0.1% minor-allele-frequency) single-variant...
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