Article

Genotyping Short Tandem Repeats Across Copy Number Alterations, Aneuploidies, and Polyploid Organisms

2024-12-17

Abstract excerpt

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...

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Literature Corpus work: 411e4bb6-3fb3-5a53-a213-d4d5444ffdad
DOI: 10.1101/2024.12.13.628141

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