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KD4v: comprehensible knowledge discovery system for missense variant

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/n...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394327/
https://www.ncbi.nlm.nih.gov/pubmed/22641855
http://dx.doi.org/10.1093/nar/gks474
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author 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
author_facet 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
author_sort Luu, Tien-Dao
collection PubMed
description 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.
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spelling pubmed-33943272012-07-30 KD4v: comprehensible knowledge discovery system for missense variant 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 Nucleic Acids Res Articles 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. Oxford University Press 2012-07 2012-05-25 /pmc/articles/PMC3394327/ /pubmed/22641855 http://dx.doi.org/10.1093/nar/gks474 Text en © The Author(s) 2012. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Articles
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
KD4v: comprehensible knowledge discovery system for missense variant
title KD4v: comprehensible knowledge discovery system for missense variant
title_full KD4v: comprehensible knowledge discovery system for missense variant
title_fullStr KD4v: comprehensible knowledge discovery system for missense variant
title_full_unstemmed KD4v: comprehensible knowledge discovery system for missense variant
title_short KD4v: comprehensible knowledge discovery system for missense variant
title_sort kd4v: comprehensible knowledge discovery system for missense variant
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394327/
https://www.ncbi.nlm.nih.gov/pubmed/22641855
http://dx.doi.org/10.1093/nar/gks474
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