Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
Bart van der Sanden, Jordi Corominas, Michelle de Groot, Maartje Pennings, Rowdy Meijer, Nienke E. Verbeek, Bart van de Warrenburg, Meyke Schouten, Helger G. Yntema, Lisenka E.L.M. Vissers, Erik‐Jan Kamsteeg, Christian Gilissen
Topics & Concepts
Exome sequencingExomeMicrosatelliteGeneticsGenetic testingPolymerase chain reactionGenotypeBiologyAlleleDNA sequencingMedicineComputational biologyBioinformaticsPhenotypeGeneGenetic Neurodegenerative DiseasesGenomics and Rare DiseasesGlycogen Storage Diseases and Myoclonus