KD4v: comprehensible knowledge discovery system for missense variant

Archive ouverte

Luu, Tien-Dao | Rusu, Alin | Walter, Vincent | Linard, Benjamin | Poidevin, Laetitia | Ripp, Raymond | Moulinier, Luc | Muller, Jean | Raffelsberger, Wolfgang | Wicker, Nicolas | Lecompte, Odile | Thompson, Julie, D. | Poch, Olivier | Nguyen, Hoan

Edité par CCSD ; Oxford University Press -

International audience. A major challenge in the post-genomic era is a better understanding of how human genetic alterations involved in disease affect the gene products. The KD4v (Comprehensible Knowledge Discovery System for Missense Variant) server allows to characterize and predict the phenotypic effects (deleteri-ous/neutral) of missense variants. The server provides a set of rules learned by Induction Logic Programming (ILP) on a set of missense variants described by conservation, physico-chemical, functional and 3D structure predicates. These rules are interpretable by non-expert humans and are used to accurately predict the deleterious/neutral status of an unknown mutation. The web server is available at http://decrypthon.igbmc.fr/kd4v.

• Description
• Sujet/Public
• Outil
• Outil d'anticipation
• Mémoire et thèse
• Gestion