Article
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
Human mutation - 1 Feb 2020
Sasorith Souphatta, Baux David, Bergougnoux Anne, Paulet Damien, Lahure Alan, Bareil Corinne, Taulan-Cadars Magali, Roux Anne-Françoise, Koenig Michel, Claustres Mireille, Raynal Caroline
Abstract excerpt
Exome sequencing used for molecular diagnosis of Mendelian disorders considerably increases the number of missense variants of unclear significance, whose pathogenicity can be assessed by a variety of prediction tools. As the performance of algorithms may vary according to the datasets, complementary specific resources are needed to improve variant interpretation. As a model, we were interested in the cystic...
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