Article

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions

2020-06-08

Abstract excerpt

<h4>ABSTRACT</h4> Short tandem repeat (STR) expansions cause several neurological and neuromuscular disorders. Screening for STR expansions in genome-wide (exome and genome) sequencing data can enable diagnosis, optimal clinical management/treatment, and accurate genetic counselling of patients with repeat expansion disorders. We assessed the performance of lobSTR, HipSTR, RepeatSeq, ExpansionHunter, TREDPARSE, G...

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Literature Corpus work: c0b4dd26-b96a-56c1-bf75-295ee51a8c65
DOI: 10.1101/2020.06.06.137356

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