Clinically relevant copy-number variants in exome sequencing data of patients with dystonia

Next-generation sequencing is now used on a routine basis for molecular testing but studies on copy-number variant (CNV) detection from next-generation sequencing data are underrepresented. Utilizing an existing whole-exome sequencing (WES) dataset, we sought to investigate the contribution of rare CNVs to the genetic causality of dystonia.

Source: Parkinsonism and Related Disorders - February 11, 2021 Category: Neurology Authors: Michael Zech, Sylvia Boesch, Matej Škorvánek, Ján Necpál, Jana Švantnerová, Matias Wagner, Yasemin Dincer, Ariane Sadr-Nabavi, Tereza Serranová, Irena Rektorová, Petra Havránková, Shahzaman Ganai, Alexandra Mosejová, Iva Příhodová, Jana Šar Tags: Short communication Source Type: research