Article

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

2017-06-30

Abstract excerpt

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 inc...

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Literature Corpus work: b6a72a9a-620b-537c-80a0-6d788b184f11
DOI: 10.1101/157792

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