Article
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2021
van der Sanden Bart P G H, Corominas Jordi, de Groot Michelle, Pennings Maartje, Meijer Rowdy P P, Verbeek Nienke, van de Warrenburg Bart, Schouten Meyke, Yntema Helger G, Vissers Lisenka E L M, Kamsteeg Erik-Jan, Gilissen Christian
Abstract excerpt
PURPOSE: Expansions of a subset of short tandem repeats (STRs) have been implicated in 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. METHODS: We assessed diagnostic utility of STR analysis in exome sequencing by applying ExpansionHunter to 2,867 exomes from...
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