Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context

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.

Citation:
Purnomo GA, Teixeira JC, Sudoyo H, Llamas B, Tobler R. Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context. Mol Ecol Resour. 2025.

Keywords:
Bioinfomatics/phyloinfomatics; genomics/proteomics; molecular evolution; population genetics—empirical

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.