Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program

Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-causing variants, has largely been applied to clinical diagnosis of inherited disorders. Here we leveraged WGS data in up to 62,653 ethnically diverse participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and assessed statistical association of variants with seven red blood cell (RBC) quantitative traits. We discovered 14 single variant-RBC trait associations at 12 genomic loci, which have not been reported previously.

Source: The American Journal of Human Genetics - April 21, 2021 Category: Genetics & Stem Cells Authors: Yao Hu, Adrienne M. Stilp, Caitlin P. McHugh, Shuquan Rao, Deepti Jain, Xiuwen Zheng, John Lane, S ébastian Méric de Bellefon, Laura M. Raffield, Ming-Huei Chen, Lisa R. Yanek, Marsha Wheeler, Yao Yao, Chunyan Ren, Jai Broome, Jee-Young Moon, Paul S. de Tags: Article Source Type: research