Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context.

ABSTRACT: Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations. Nonetheless, the wide adoption of imputation methods in humans and other species is currently constrained by the lack of publicly available reference panels that capture diversity representative of the target genomes-though the recent development of 'joint' im

SUBMITTER: Purnomo GA 

PROVIDER: S-EPMC12550477 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature