Skip to Main content Skip to Navigation
Journal articles

Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies

Document type :
Journal articles
Complete list of metadatas

https://hal-amu.archives-ouvertes.fr/hal-02461436
Contributor : Valérie Gall <>
Submitted on : Thursday, January 30, 2020 - 4:34:45 PM
Last modification on : Sunday, August 2, 2020 - 5:26:11 AM

Links full text

Identifiers

Citation

K. Yauy, D. Baux, H. Pegeot, C. van Goethem, C. Mathieu, et al.. Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies. European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩. ⟨hal-02461436⟩

Share

Metrics

Record views

107