Experience of targeted Usher exome sequencing as a clinical test

Experience of targeted Usher exome sequencing as a clinical test

Abstract We show that massively parallel targeted sequencing of 19 genes provides a new and reliable strategy for molecular diagnosis of Usher syndrome (USH) and nonsyndromic deafness, particularly appropriate for these disorders characterized by a high clinical and genetic heterogeneity and a compl...

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Main Authors: Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, Jose M. Millan, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Bioinformatics
next‐generation sequencing
NSHL
Usher syndrome
variant prioritization
Online Access:https://doi.org/10.1002/mgg3.25

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