P.245 - Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation.

Subjects

Subjects :

*MUSCULAR dystrophy diagnosis
*NUCLEOTIDE sequencing
*BIOINFORMATICS
*MOLECULAR diagnosis
*NEUROMUSCULAR diseases
MUSCULAR dystrophy genetics

Details

Language :

English

ISSN :

09608966

Volume :

26

Database :

Academic Search Index

Journal :

Neuromuscular Disorders

Publication Type :

Academic Journal

Accession number :

118028945

Full Text :

https://doi.org/10.1016/j.nmd.2016.06.275