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KD4v: comprehensible knowledge discovery system for missense variant
- Source :
- Nucleic Acids Research, Nucleic Acids Research, Oxford University Press, 2012, 40 (W1), pp.W71-W75. ⟨10.1093/nar/gks474⟩, Nucleic Acids Research, 2012, 40 (W1), pp.W71-W75. ⟨10.1093/nar/gks474⟩
- Publication Year :
- 2012
- Publisher :
- HAL CCSD, 2012.
-
Abstract
- 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.
- Subjects :
- Knowledge Bases
education
Mutation, Missense
Biology
[SDV.BID.SPT]Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy
Polymorphism, Single Nucleotide
Genome
Set (abstract data type)
03 medical and health sciences
0302 clinical medicine
Knowledge extraction
[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]
[SDV.BID.SPT] Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy
Genetics
Humans
Missense mutation
Disease
Gene
Genetic Association Studies
Logic programming
[INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]
030304 developmental biology
Structure (mathematical logic)
Internet
0303 health sciences
Proteins
Articles
[SDE.BE] Environmental Sciences/Biodiversity and Ecology
Phenotype
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]
[SDE.BE]Environmental Sciences/Biodiversity and Ecology
[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]
Software
Subjects
Details
- Language :
- English
- ISSN :
- 03051048 and 13624962
- Database :
- OpenAIRE
- Journal :
- Nucleic Acids Research, Nucleic Acids Research, Oxford University Press, 2012, 40 (W1), pp.W71-W75. ⟨10.1093/nar/gks474⟩, Nucleic Acids Research, 2012, 40 (W1), pp.W71-W75. ⟨10.1093/nar/gks474⟩
- Accession number :
- edsair.doi.dedup.....1bffc64bbd8dc6033549b383da7b9652
- Full Text :
- https://doi.org/10.1093/nar/gks474⟩