Laboratoire de Bioinformatique et Génomique Intégratives, Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.
Nucleic Acids Res. 2012 Jul;40(Web Server issue):W71-5. doi: 10.1093/nar/gks474. Epub 2012 May 27.
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.
在后基因组时代,面临的主要挑战是更好地理解涉及疾病的人类遗传改变如何影响基因产物。KD4v(错义变异理解知识发现系统)服务器可用于对错义变异的表型效应(有害/中性)进行特征描述和预测。该服务器提供了一组由归纳逻辑编程 (ILP) 学习的规则,这些规则基于保守性、物理化学、功能和 3D 结构预测子来描述错义变异。这些规则可由非专业人员解释,并用于准确预测未知突变的有害/中性状态。该网络服务器可在 http://decrypthon.igbmc.fr/kd4v 上获得。