Article

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

2020-10-21

Abstract excerpt

<h4>Purpose</h4> The expansion of specific short tandem repeats (STRs) can lead to approximately 30 different human genetic disorders. Despite extensive application of exome sequencing (ES) in routine diagnostic genetic testing, STRs are not routinely identified from these data. <h4>Methods</h4> We assessed diagnostic utility by applying ExpansionHunter to 2,867 exomes from movement disorder patients and 35,228 ot...

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Literature Corpus work: 37a65c52-57ef-5ddd-a95a-e775cc586cd2
DOI: 10.1101/2020.10.19.20211144

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