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

Autor: Yauy, K., Baux, D., Pegeot, H., Van Goethem, C., Mathieu, C., Guignard, T., Morales, R. Juntas, Lacourt, D., Krahn, Martin, Lektokari, V., Bonne, G., Tuffery-Giraud, S., Koenig, M., Cossee, M.

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9e34ce3babb38d7e54040a4edcd86a5a
https://amu.hal.science/hal-02461436