Cargando…
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...
Autores principales: | , , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1782237855060328448 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3394327 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT luutiendao kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT rusualin kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT waltervincent kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT linardbenjamin kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT poidevinlaetitia kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT rippraymond kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT moulinierluc kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT mullerjean kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT raffelsbergerwolfgang kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT wickernicolas kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT lecompteodile kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT thompsonjulied kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT pocholivier kd4vcomprehensibleknowledgediscoverysystemformissensevariant AT nguyenhoan kd4vcomprehensibleknowledgediscoverysystemformissensevariant |