Whole-exome sequencing identifies loci associated with blood cell traits and reveals a role for alternative gfi1b splice variants in human hematopoiesis?

The important indicators of hemotopoietic function and a number of clinical parameters, such as blood oxygen-carrying capacity, inflammation, and hemostasis are circulating blodd cell coutns and indices. By performing whole-exome sequence association analyses of hematologic quantitative traits in 15,459 community-dwelling individuals, followed by in silico replication in up to 52,024 independent samples, we identified two previously undescribed coding variants associated with lower platelet count.