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Oxford University Press, Nucleic Acids Research, W1(40), p. W71-W75, 2012

DOI: 10.1093/nar/gks474

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KD4v: comprehensible knowledge discovery system for missense variant

Journal article published in 2012 by Tien-Dao Luu, Alin Rusu, Vincent Walter, Benjamin Linard, Laetitia Poidevin, Raymond Ripp, Luc Moulinier, Jean Muller ORCID, Wolfgang Raffelsberger, Nicolas Wicker, Odile Lecompte, Julie D. Thompson, Olivier Poch, Hoan Nguyen
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 (deleterious/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.