%0 Journal Article
%T A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes
%A Caroline Espil
%A Claude Cances
%A Corine Theze
%A Cyril Goizet
%A Delphine Lacourt
%A Dimitri Renard
%A Emmanuelle Uro-Coste
%A Eric Bieth
%A Fran£¿ois Rivier
%A Guilhem Sole
%A Henri Pegeot
%A Kevin Yauy
%A Marie-Christine Arn¨¦-Bes
%A Marie-Laure Martin Negrier
%A Michel Koenig
%A Mireille Claustres
%A Mireille Coss¨¦e
%A Pascal Cintas
%A Raul Juntas Morales
%A Reda Zenagui
%A Ulrike Walther-Louvier
%A Val¨¦rie Rigau
%A Xavier Ferrer-Monasterio
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2018.04.001
%X Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases,
with >100 identified genes, including the giant and complex titin (TTN) and nebulin
(NEB) genes. Next-generation sequencing technology revolutionized M-MD diagnosis and
revealed high frequency of TTN and NEB variants. We developed a next-generation sequencing
diagnostic strategy targeted to the coding sequences of 135 M-MD genes. Comparison
of two targeted capture technologies (SeqCap EZ Choice library capture kit and Nextera
Rapid Capture Custom Enrichment kit) and of two whole-exome sequencing kits (SureSelect
V5 and TruSeq RapidExome capture) revealed best coverage with the SeqCap EZ Choice
protocol.
%U https://jmd.amjpathol.org/article/S1525-1578(17)30318-5/fulltext