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EpilepsyGene: a genetic resource for genes and mutations related to epilepsy
Epilepsy is one of the most prevalent chronic neurological disorders, afflicting about 3.5–6.5 per 1000 children and 10.8 per 1000 elderly people. With intensive effort made during the last two decades, numerous genes and mutations have been published to be associated with the disease. An organized...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384015/ https://www.ncbi.nlm.nih.gov/pubmed/25324312 http://dx.doi.org/10.1093/nar/gku943 |
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author | Ran, Xia Li, Jinchen Shao, Qianzhi Chen, Huiqian Lin, Zhongdong Sun, Zhong Sheng Wu, Jinyu |
author_facet | Ran, Xia Li, Jinchen Shao, Qianzhi Chen, Huiqian Lin, Zhongdong Sun, Zhong Sheng Wu, Jinyu |
author_sort | Ran, Xia |
collection | PubMed |
description | Epilepsy is one of the most prevalent chronic neurological disorders, afflicting about 3.5–6.5 per 1000 children and 10.8 per 1000 elderly people. With intensive effort made during the last two decades, numerous genes and mutations have been published to be associated with the disease. An organized resource integrating and annotating the ever-increasing genetic data will be imperative to acquire a global view of the cutting-edge in epilepsy research. Herein, we developed EpilepsyGene (http://61.152.91.49/EpilepsyGene). It contains cumulative to date 499 genes and 3931 variants associated with 331 clinical phenotypes collected from 818 publications. Furthermore, in-depth data mining was performed to gain insights into the understanding of the data, including functional annotation, gene prioritization, functional analysis of prioritized genes and overlap analysis focusing on the comorbidity. An intuitive web interface to search and browse the diversified genetic data was also developed to facilitate access to the data of interest. In general, EpilepsyGene is designed to be a central genetic database to provide the research community substantial convenience to uncover the genetic basis of epilepsy. |
format | Online Article Text |
id | pubmed-4384015 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-43840152015-04-08 EpilepsyGene: a genetic resource for genes and mutations related to epilepsy Ran, Xia Li, Jinchen Shao, Qianzhi Chen, Huiqian Lin, Zhongdong Sun, Zhong Sheng Wu, Jinyu Nucleic Acids Res Database Issue Epilepsy is one of the most prevalent chronic neurological disorders, afflicting about 3.5–6.5 per 1000 children and 10.8 per 1000 elderly people. With intensive effort made during the last two decades, numerous genes and mutations have been published to be associated with the disease. An organized resource integrating and annotating the ever-increasing genetic data will be imperative to acquire a global view of the cutting-edge in epilepsy research. Herein, we developed EpilepsyGene (http://61.152.91.49/EpilepsyGene). It contains cumulative to date 499 genes and 3931 variants associated with 331 clinical phenotypes collected from 818 publications. Furthermore, in-depth data mining was performed to gain insights into the understanding of the data, including functional annotation, gene prioritization, functional analysis of prioritized genes and overlap analysis focusing on the comorbidity. An intuitive web interface to search and browse the diversified genetic data was also developed to facilitate access to the data of interest. In general, EpilepsyGene is designed to be a central genetic database to provide the research community substantial convenience to uncover the genetic basis of epilepsy. Oxford University Press 2014-10-16 2015-01-28 /pmc/articles/PMC4384015/ /pubmed/25324312 http://dx.doi.org/10.1093/nar/gku943 Text en © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Database Issue Ran, Xia Li, Jinchen Shao, Qianzhi Chen, Huiqian Lin, Zhongdong Sun, Zhong Sheng Wu, Jinyu EpilepsyGene: a genetic resource for genes and mutations related to epilepsy |
title | EpilepsyGene: a genetic resource for genes and mutations related to epilepsy |
title_full | EpilepsyGene: a genetic resource for genes and mutations related to epilepsy |
title_fullStr | EpilepsyGene: a genetic resource for genes and mutations related to epilepsy |
title_full_unstemmed | EpilepsyGene: a genetic resource for genes and mutations related to epilepsy |
title_short | EpilepsyGene: a genetic resource for genes and mutations related to epilepsy |
title_sort | epilepsygene: a genetic resource for genes and mutations related to epilepsy |
topic | Database Issue |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384015/ https://www.ncbi.nlm.nih.gov/pubmed/25324312 http://dx.doi.org/10.1093/nar/gku943 |
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