Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.
Bart P G H van der SandenJordi CorominasMichelle de GrootMaartje PenningsRowdy P P MeijerNienke VerbeekBart van de WarrenburgMeyke SchoutenHelger G YntemaLisenka E L M VissersErik-Jan KamsteegChristian GilissenPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Our work provides guidance for the implementation of STR analysis in clinical ES. Our results show that systematic STR evaluation may increase diagnostic ES yield by 0.2%, and recommend making STR evaluation a routine part of ES interpretation in genetic testing laboratories.