[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases

D Vuckovic, EL Bao, P Akbari, CA Lareau, A Mousas… - Cell, 2020 - cell.com
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant
global health burden. Here we integrate data from UK Biobank and a large-scale
international collaborative effort, including data for 563,085 European ancestry participants,
and discover 5,106 new genetic variants independently associated with 29 blood cell
phenotypes covering a range of variation impacting hematopoiesis. We holistically …

[PDF][PDF] The Polygenic and Monogenic Basis of Blood Traits and Diseases

N Soranzo, VG Sankaran - academia.edu
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant
health burden. Here we integrate data from UK Biobank and a large-scale international
collaborative effort, including 563,946 European ancestry participants, and discover 5,106
new genetic variants independently associated with 29 blood cell phenotypes covering the
full allele frequency spectrum of variation impacting hematopoiesis. We holistically …
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