Article
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.
American journal of human genetics - 6 May 2021
Hu Yao, Stilp Adrienne M, McHugh Caitlin P, Rao Shuquan, Jain Deepti, Zheng Xiuwen, Lane John, Méric de Bellefon Sébastian, Raffield Laura M, Chen Ming-Huei, Yanek Lisa R, Wheeler Marsha, Yao Yao, Ren Chunyan, Broome Jai, Moon Jee-Young, de Vries Paul S, Hobbs Brian D, Sun Quan, Surendran Praveen, Brody Jennifer A, Blackwell Thomas W, Choquet Hélène, Ryan Kathleen, Duggirala Ravindranath, Heard-Costa Nancy, Wang Zhe, Chami Nathalie, Preuss Michael H, Min Nancy, Ekunwe Lynette, Lange Leslie A, Cushman Mary, Faraday Nauder, Curran Joanne E, Almasy Laura, Kundu Kousik, Smith Albert V, Gabriel Stacey, Rotter Jerome I, Fornage Myriam, Lloyd-Jones Donald M, Vasan Ramachandran S, Smith Nicholas L, North Kari E, Boerwinkle Eric, Becker Lewis C, Lewis Joshua P, Abecasis Goncalo R, Hou Lifang, O'Connell Jeffrey R, Morrison Alanna C, Beaty Terri H, Kaplan Robert, Correa Adolfo, Blangero John, Jorgenson Eric, Psaty Bruce M, Kooperberg Charles, Walton Russell T, Kleinstiver Benjamin P, Tang Hua, Loos Ruth J F, Soranzo Nicole, Butterworth Adam S, Nickerson Debbie, Rich Stephen S, Mitchell Braxton D, Johnson Andrew D, Auer Paul L, Li Yun, Mathias Rasika A, Lettre Guillaume, Pankratz Nathan, Laurie Cathy C, Laurie Cecelia A, Bauer Daniel E, Conomos Matthew P, Reiner Alexander P
Abstract excerpt
Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-causing variants, has largely been applied to clinical diagnosis of inherited disorders. Here we leveraged WGS data in up to 62,653 ethnically diverse participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and assessed statistical association of variants with seven red blood cell (RBC)...
Read the complete abstract on PubMed