LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.

ABSTRACT:

Background

Short tandem repeats (STRs) are widely distributed across the human genome and are associated with numerous neurological disorders. However, the extent that STRs contribute to disease is likely under-estimated because of the challenges calling these variants in short read next generation sequencing data. Several computational tools have been developed for STR variant calling, but none fully address all of the complexities associated with this variant class.

Results

Here we introduce LUSTR which is designed to address some of the challenges associated with STR variant calling by enabling more flexibility in defining STR loci, allowing for customizable modules to tailor analyses, and expanding the capability to call somatic and multiallelic STR variants. LUSTR is a 

SUBMITTER: Lu J 

PROVIDER: S-EPMC10811831 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature