Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.

ABSTRACT: Rare genetic diseases pose significant diagnostic challenges, especially in geographically isolated populations where consanguinity, founder effects, and novel variants often influence disease patterns. Whole-exome sequencing (WES) is standard practice for rare disease diagnostics, but its limited coverage of noncoding regions limits inheritance-by-descent (IBD) and Runs of Homozygosity (RoH) inference. In this study, we tested an imputation-enhanced IBD and RoH detection method using WES data of 84 individuals from 51 families in Boyacá, Colombia-an Andean region with complex admixed American ancestry. By leveraging large, multi-ancestry reference panels to impute genotypes and increase variant distribution, we achieved improved detection of IBD and RoH regions, with KING showing the best

SUBMITTER: Gaviria-Sabogal CC 

PROVIDER: S-EPMC12498279 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature