Article

STRkit: precise, read-level genotyping of short tandem repeats using long reads and single-nucleotide variation

2025-03-28

Abstract excerpt

Variation in short tandem repeats (STRs) is implicated in Mendelian disease and complex traits, but can be difficult to resolve with short-read genome sequencing. We present STRkit , a software package for genotyping STRs using long read sequencing (LRS) that uses nearby single-nucleotide variants to improve genotyping accuracy without a priori haplotype information. We show that STRkit has unique strengths vers...

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Identifiers and source

Literature Corpus work: 872ff569-c154-58fd-9648-ec87ea85279d
DOI: 10.1101/2025.03.25.645269

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