Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

@article{Houdayer2012GuidelinesFS,
  title={Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.},
  author={Claude Houdayer and Virginie Caux-Moncoutier and Sophie Krieger and Michel Barrois and Françoise Bonnet and Violaine Bourdon and Myriam Bronner and Monique Buisson and Florence Coulet and Pascaline Gaildrat and C{\'e}drick Lefol and M{\'e}lanie L{\'e}on{\'e} and Sylvie Mazoyer and Danielle Muller and Audrey Remenieras and Françoise R{\'e}villion and Etienne Rouleau and Joanna Sokolowska and Jean-Philippe Vert and Rosette Lidereau and Florent Soubrier and Hagay Sobol and Nicolas Sevenet and Brigitte Bressac-de Paillerets and Agn{\`e}s Hardouin and Mario Tosi and Olga Sinilnikova and Dominique Stoppa-Lyonnet},
  journal={Human mutation},
  year={2012},
  volume={33 8},
  pages={1228-38}
}
Assessing the impact of variants of unknown significance (VUS) on splicing is a key issue in molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation and user guidelines are lacking. To fill this gap, we embarked upon the largest BRCA1 and BRCA2 splice study to date by testing 272 VUSs (327 analyses) within the BRCA splice network of Unicancer. All these VUSs were analyzed by using six tools (splice site prediction by neural network, splice site finder (SSF… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 1 time. VIEW TWEETS

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 75 extracted citations

Similar Papers

Loading similar papers…