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Caroline Raynal, David Baux, Corinne Theze, Corinne Bareil, Magali Taulan, Anne-Françoise Roux, Mireille Claustres, Sylvie Tuffery-Giraud and Marie des Georges A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene Human Mutation 34

Article first published online: 5 APR 2013 | DOI: 10.1002/humu.22291

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More than 1,900 sequence variations have already been reported worldwide in the CFTR gene, including at least 20% variants of unknown clinical significance (VUCS). We built a decision tree for the classification of these VUCS, specifically focused on their consequences on splicing by performing (1) comprehensive review of literature and databases (2) familial genetics data analysis and (3) thorough in silico studies. Our method can play a full role in interpreting the results of molecular diagnosis in emergency context.

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