Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.

ABSTRACT: Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic. These can present with overlapping clinical phenotypes, making molecular diagnosis challenging. Single-gene or small-panel PCR-based methods can help to identify the precise genetic cause, but they can be slow and costly and often yield no result. Researchers are increasingly performing genomic analysis via whole-exome and whole-genome sequencing (WES and WGS) to diagnose genetic disorders. However, until recently, analysis protocols could not identify repeat expansions in these datasets. We developed exSTRa (expanded short tandem repeat algorithm), a method that uses either WES or WGS to identify repeat expansions. Performance of exSTRa was assessed in a simulation study. In addition, four retrospective

SUBMITTER: Tankard RM 

PROVIDER: S-EPMC6288141 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature