Genotyping short tandem repeats across copy number alterations, aneuploidies, and polyploid organisms.

ABSTRACT: Short tandem repeats (STRs) are a rich source of genetic variation, but are difficult to genotype. While specialized repeat variant callers exist, they typically assume a euploid human genome. This means recent findings regarding phenotypic effects of STR variants in human health and disease cannot be readily extended to polyploid organisms or cancer, which is characterised by copy number alterations (CNAs). Here we present ConSTRain, a novel STR variant caller that explicitly accounts for the copy number of loci in its genotyping approach. We benchmark ConSTRain using a euploid human 100X whole genome sequencing sample where it calls STR allele lengths for over 1.7 × 10⁶ loci in under 20 minutes with an accuracy of 98.28%. Subsequently, we show that ConSTRain resolves complex S

SUBMITTER: Verbiest MA 

PROVIDER: S-EPMC12504596 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature