Article
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Human molecular genetics - 10 Sept 2022
Pankratz Nathan, Wei Peng, Brody Jennifer A, Chen Ming-Huei, de Vries Paul S, Huffman Jennifer E, Stimson Mary Rachel, Auer Paul L, Boerwinkle Eric, Cushman Mary, de Maat Moniek P M, Folsom Aaron R, Franco Oscar H, Gibbs Richard A, Haagenson Kelly K, Hofman Albert, Johnsen Jill M, Kovar Christie L, Kraaij Robert, McKnight Barbara, Metcalf Ginger A, Muzny Donna, Psaty Bruce M, Tang Weihong, Uitterlinden André G, van Rooij Jeroen G J, Dehghan Abbas, O'Donnell Christopher J, Reiner Alex P, Morrison Alanna C, Smith Nicholas L
Abstract excerpt
Plasma levels of fibrinogen, coagulation factors VII and VIII and von Willebrand factor (vWF) are four intermediate phenotypes that are heritable and have been associated with the risk of clinical thrombotic events. To identify rare and low-frequency variants associated with these hemostatic factors, we conducted whole-exome sequencing in 10 860 individuals of European ancestry (EA) and 3529 African Americans...
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