Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program.

ABSTRACT: Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare blood or hematopoietic disorders, the genome-wide contribution of structural variants to quantitative blood cell trait variation is unknown. Here we utilized whole genome sequencing data in ancestrally diverse participants of the NHLBI Trans Omics for Precision Medicine program (N = 50,675) to detect structural variants associated with hematologic traits. Using single variant tests, we assessed the association of common and rare structural variants with red cell-, white cell-, and platelet-related quantitative traits and observed 21 independent signals (12 common and 9 rare) reaching ge

SUBMITTER: Wheeler MM 

PROVIDER: S-EPMC9732337 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature