Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.

ABSTRACT:

Background

Screening for short tandem repeat (STR) expansions in next-generation sequencing data can enable diagnosis, optimal clinical management/treatment, and accurate genetic counseling of patients with repeat expansion disorders. We aimed to develop an efficient computational workflow for reliable detection of STR expansions in next-generation sequencing data and demonstrate its clinical utility.

Methods

We characterized the performance of eight STR analysis methods (lobSTR, HipSTR, RepeatSeq, ExpansionHunter, TREDPARSE, GangSTR, STRetch, and exSTRa) on next-generation sequencing datasets of samples with known disease-causing full-mutation STR expansions and genomes simulated to harbor repeat expansions at selected loci and optimized their sensitivity. We then used a ma

SUBMITTER: Rajan-Babu IS 

PROVIDER: S-EPMC8351082 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature