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Titel:

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

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Zech, Michael; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Švantnerová, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranová, Tereza; Rektorová, Irena; Havránková, Petra; Ganai, Shahzaman; Mosejová, Alexandra; Příhodová, Iva; Šarláková, Jana; Kulcsarová, Kristína; Ulmanová, Olga; Bechyně, Karel; Ostrozovičová, Miriam; Haň, Vladimír; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, T...     »
Abstract:
INTRODUCTION: 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. METHODS: The CNV read-depth analysis tool ExomeDepth was applied to the exome sequences of 953 unrelated patients with dystonia (600 with isola...     »
Zeitschriftentitel:
Parkinsonism Relat Disord
Jahr:
2021
Band / Volume:
84
Seitenangaben Beitrag:
129-134
Volltext / DOI:
doi:10.1016/j.parkreldis.2021.02.013
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33611074
Print-ISSN:
1353-8020
TUM Einrichtung:
Institut für Humangenetik; Klinik und Poliklinik für Kinder- und Jugendmedizin; Klinik und Poliklinik für Neurologie; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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