A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations.

ABSTRACT: Regardless of the overwhelming use of next-generation sequencing technologies, microarray-based genotyping combined with the imputation of untyped variants remains a cost-effective means to interrogate genetic variations across the human genome. This technology is widely used in genome-wide association studies (GWAS) at bio-bank scales, and more recently, in polygenic score (PGS) analysis to predict and stratify disease risk. Over the last decade, human genotyping arrays have undergone a tremendous growth in both number and content making a comprehensive evaluation of their performances became more important. Here, we performed a comprehensive performance assessment for 23 available human genotyping arrays in 6 ancestry groups using diverse public and in-house datasets. The analyses focus

SUBMITTER: Nguyen DT 

PROVIDER: S-EPMC9585077 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature