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

@inproceedings{Leman2018NovelDT,
  title={Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort},
  author={Rapha{\"e}l Leman and Pascaline Gaildrat and G{\'e}rald Le Gac and Chandran Ka and Yann Fichou and M. Audr{\'e}zet and Virginie Caux-Moncoutier and Sandrine Caputo and Nadia Boutry-Kryza and M{\'e}lanie L{\'e}on{\'e} and Sylvie Mazoyer and Françoise Bonnet-Dorion and Nicolas Sevenet and Marine Guillaud-Bataille and Etienne Rouleau and Brigitte Bressac-de Paillerets and Barbara Wappenschmidt and Maria Rossing and Danielle Muller and Violaine Bourdon and Françoise R{\'e}villon and Michael T Parsons and Antoine Rousselin and Gr{\'e}goire Davy and Gaia Castelain and Laurent Cast{\'e}ra and Joanna Sokolowska and Florence Coulet and Capucine Delnatte and Claude F{\'e}rec and Amanda B Spurdle and Alexandra Martins and Sophie Krieger and Claude Houdayer},
  booktitle={Nucleic acids research},
  year={2018}
}
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 major improvement. Thanks to an international effort, a set of 395 variants studied at the mRNA level and occurring in 5' and 3' consensus regions (defined as the 11 and 14 bases surrounding the exon… CONTINUE READING
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