Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Author:

Gorokhova Svetlana,Cerino Mathieu,Mathieu Yves,Courrier Sébastien,Desvignes Jean-Pierre,Salgado David,Béroud Christophe,Krahn Martin,Bartoli Marc

Funder

European Community's Seventh Framework Programme

Publisher

Elsevier BV

Subject

Pharmaceutical Science,Molecular Biology,Biotechnology

Reference15 articles.

1. Characterizing and measuring bias in sequence data;Ross;Genome Biol.,2013

2. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing;O'Rawe;Genome Med.,2013

3. Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing;Park;PLoS One,2014

4. Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions;Lelieveld;Hum. Mutat.,2015

5. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing;Xue;Genet. Med.,2014

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