Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Variant interpretation is the key issue in molecular diagnosis. Spliceogenic variants exemplify this issue as each nucleotide variant can be deleterious via disruption or creation of splice site consensus sequences. Consequently, reliable in silico prediction of variant spliceogenicity would be a ma...

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Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Main Authors: Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
RNA and RNA-protein complexes
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6125621/
https://ncbi.nlm.nih.gov/pubmed/29750258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gky372
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