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Blood-Cell Consortium members from the UNC Department of Genetics, Drs. Yun Li (associate professor), Laura Raffield (assistant professor), Karen Mohlke (professor) and Cassandra Spracklen (former postdoctoral fellow) are co-authors on two large studies focused on the genetics of blood cell traits.

Drs. Yun Li, Laura Raffield, Karen Mohlke and Cassandra Spracklen are co-authors on two papers in the 3 September 2020 issue of Cell.  They are members of the Blood-Cell Consortium (BCX), an international collaboration with the goal of identifying common and rare variants associated with blood cell traits.

“Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations” (Dr. Laura Raffield, co-first author) describes the study which assessed 15 blood cell traits in almost three-quarters of a million participants from European, East Asian, African, Hispanic/Latino and South Asian backgrounds.  The study identified more than 5,500 associations, including ~100 associations not found in Europeans, demonstrating that blood cell traits differ by ancestry and are subject to selective pressure.

In the companion paper, “The Polygenic and Monogenic Basis of Blood Traits and Diseases”, the largest genome-wide association study (GWAS) of blood-cell traits performed to date, the authors provide functional insights into how genetic variants impact human hematopoiesis, assess the effect of polygenic trait scores on blood diseases and provide empiric assessments of omnigenic and infinitesimal models of polygenic variation.

Cassandra Spracklen, PhD, was a postdoc in Genetics at UNC and is now an assistant professor of biostatistics and epidemiology at University of Massachusetts, Amherst.