Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.

ABSTRACT:

Purpose

Rh antigens can provoke severe alloimmune reactions, particularly in high-risk transfusion contexts, such as sickle cell disease. Rh antigens are encoded by the paralogs, RHD and RHCE, located in one of the most complex genetic loci. Our goal was to characterize RH genetic variation in multi-ethnic cohorts, with the focus on detecting RH structural variation (SV).

Methods

We customized analytical methods to estimate paralog-specific copy number from next-generation sequencing (NGS) data. We applied these methods to clinically characterized samples, including four World Health Organization (WHO) genotyping references and 1135 Asian and Native American blood donors. Subsequently, we surveyed 1715 African American samples from the Jackson Heart Study.

Results

Mos

SUBMITTER: Wheeler MM 

PROVIDER: S-EPMC6311147 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature