Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.

ABSTRACT: Genetic studies in underrepresented populations identify disproportionate numbers of novel associations. However, most genetic studies use genotyping arrays and sequenced reference panels that best capture variation most common in European ancestry populations. To compare data generation strategies best suited for underrepresented populations, we sequenced the whole genomes of 91 individuals to high coverage as part of the Neuropsychiatric Genetics of African Population-Psychosis (NeuroGAP-Psychosis) study with participants from Ethiopia, Kenya, South Africa, and Uganda. We used a downsampling approach to evaluate the quality of two cost-effective data generation strategies, GWAS arrays versus low-coverage sequencing, by calculating the concordance of imputed variants from these technologi

SUBMITTER: Martin AR 

PROVIDER: S-EPMC8059370 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature