Journal article

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

Rick Tankard, Mark Bennett, Peter Degorski, Martin Delatycki, Paul Lockhart, Melanie Bahlo

Published : 2017


Repeat expansions cause over 30, predominantly neurogenetic, inherited disorders. These can present with overlapping clinical phenotypes, making molecular diagnosis challenging. Single gene or small panel PCR-based methods are employed to identify the precise genetic cause, but can be slow and costly, and often yield no result. Genomic analysis via whole exome and whole genome sequencing (WES and WGS) is being increasingly performed to diagnose genetic disorders. However, until recently analysis protocols could not identify repeat expansions in these datasets. A new method, called exSTRa ( e xpanded S hort T andem R epeat a lgorithm) for the identification of repeat expansions using either W..

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