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A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology - Nature Communications
Abstract Blood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these structures has not been subjected previously to large-scale genetic analysis. We perform genome-wide association studies of 63 flow-cytometry derived cellular phenotypes—including cell-type specific measures of granularity, nucleic acid content and reactivity—in 41,515 participants in the INTERVAL study.
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
By Parsa Akbari, Ankit Gilani, Olukayode Sosina, Jack A. Kosmicki, Lori Khrimian, Yi-Ya Fang, Trikaldarshi Persaud, Victor Garcia, Dylan Sun, Alexander Li, Joelle Mbatchou, Adam E. Locke, Christian Benner, Niek Verweij, Nan Lin, Sakib Hossain, Kevin Agostinucci, Jonathan V. Pascale, Ercument Dirice, Michael Dunn, Regeneron Genetics Center, DiscovEHR Collaboration, William E. Kraus, Svati H. Shah, Yii-Der I. Chen, Jerome I. Rotter, Daniel J. Rader, Olle Melander, Christopher D.
The Polygenic and Monogenic Basis of Blood Traits and Diseases
Under a Creative Commons license open access Highlights • Largest genome-wide association study of blood cell traits to date • Empiric assessments of omnigenic and infinitesimal models of polygenic variation • Functional insights into how genetic variants impact human hematopoiesis • Assessment of the effect of polygenic trait scores upon blood diseases Summary Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and...
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