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 - Archive ouverte HAL Access content directly
Journal Articles European Journal of Human Genetics Year : 2019

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

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hal-02461436 , version 1 (30-01-2020)

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K. Yauy, David 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, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩. ⟨hal-02461436⟩
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