Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit.

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 proximate single-nucleotide variants to improve genotyping accuracy without a priori haplotype information. We show that STRkit has unique strengths...

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