TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data.

ABSTRACT:

Background

Tandem repeat sequences are widespread in the human genome, and their expansions cause multiple repeat-mediated disorders. Genome-wide discovery approaches are needed to fully elucidate their roles in health and disease, but resolving tandem repeat variation accurately remains a challenging task. While traditional mapping-based approaches using short-read data have severe limitations in the size and type of tandem repeats they can resolve, recent third-generation sequencing technologies exhibit substantially higher sequencing error rates, which complicates repeat resolution.

Results

We developed TRiCoLOR, a freely available tool for tandem repeat profiling using error-prone long reads from third-generation sequencing technologies. The method can identify repetitiv

SUBMITTER: Bolognini D 

PROVIDER: S-EPMC7539535 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature