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VARAdb: a comprehensive variation annotation database for human
With the study of human diseases and biological processes increasing, a large number of non-coding variants have been identified and facilitated. The rapid accumulation of genetic and epigenomic information has resulted in an urgent need to collect and process data to explore the regulation of non-c...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779011/ https://www.ncbi.nlm.nih.gov/pubmed/33095866 http://dx.doi.org/10.1093/nar/gkaa922 |
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author | Pan, Qi Liu, Yue-Juan Bai, Xue-Feng Han, Xiao-Le Jiang, Yong Ai, Bo Shi, Shan-Shan Wang, Fan Xu, Ming-Cong Wang, Yue-Zhu Zhao, Jun Chen, Jia-Xin Zhang, Jian Li, Xue-Cang Zhu, Jiang Zhang, Guo-Rui Wang, Qiu-Yu Li, Chun-Quan |
author_facet | Pan, Qi Liu, Yue-Juan Bai, Xue-Feng Han, Xiao-Le Jiang, Yong Ai, Bo Shi, Shan-Shan Wang, Fan Xu, Ming-Cong Wang, Yue-Zhu Zhao, Jun Chen, Jia-Xin Zhang, Jian Li, Xue-Cang Zhu, Jiang Zhang, Guo-Rui Wang, Qiu-Yu Li, Chun-Quan |
author_sort | Pan, Qi |
collection | PubMed |
description | With the study of human diseases and biological processes increasing, a large number of non-coding variants have been identified and facilitated. The rapid accumulation of genetic and epigenomic information has resulted in an urgent need to collect and process data to explore the regulation of non-coding variants. Here, we developed a comprehensive variation annotation database for human (VARAdb, http://www.licpathway.net/VARAdb/), which specifically considers non-coding variants. VARAdb provides annotation information for 577,283,813 variations and novel variants, prioritizes variations based on scores using nine annotation categories, and supports pathway downstream analysis. Importantly, VARAdb integrates a large amount of genetic and epigenomic data into five annotation sections, which include ‘Variation information’, ‘Regulatory information’, ‘Related genes’, ‘Chromatin accessibility’ and ‘Chromatin interaction’. The detailed annotation information consists of motif changes, risk SNPs, LD SNPs, eQTLs, clinical variant-drug-gene pairs, sequence conservation, somatic mutations, enhancers, super enhancers, promoters, transcription factors, chromatin states, histone modifications, chromatin accessibility regions and chromatin interactions. This database is a user-friendly interface to query, browse and visualize variations and related annotation information. VARAdb is a useful resource for selecting potential functional variations and interpreting their effects on human diseases and biological processes. |
format | Online Article Text |
id | pubmed-7779011 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-77790112021-01-06 VARAdb: a comprehensive variation annotation database for human Pan, Qi Liu, Yue-Juan Bai, Xue-Feng Han, Xiao-Le Jiang, Yong Ai, Bo Shi, Shan-Shan Wang, Fan Xu, Ming-Cong Wang, Yue-Zhu Zhao, Jun Chen, Jia-Xin Zhang, Jian Li, Xue-Cang Zhu, Jiang Zhang, Guo-Rui Wang, Qiu-Yu Li, Chun-Quan Nucleic Acids Res Database Issue With the study of human diseases and biological processes increasing, a large number of non-coding variants have been identified and facilitated. The rapid accumulation of genetic and epigenomic information has resulted in an urgent need to collect and process data to explore the regulation of non-coding variants. Here, we developed a comprehensive variation annotation database for human (VARAdb, http://www.licpathway.net/VARAdb/), which specifically considers non-coding variants. VARAdb provides annotation information for 577,283,813 variations and novel variants, prioritizes variations based on scores using nine annotation categories, and supports pathway downstream analysis. Importantly, VARAdb integrates a large amount of genetic and epigenomic data into five annotation sections, which include ‘Variation information’, ‘Regulatory information’, ‘Related genes’, ‘Chromatin accessibility’ and ‘Chromatin interaction’. The detailed annotation information consists of motif changes, risk SNPs, LD SNPs, eQTLs, clinical variant-drug-gene pairs, sequence conservation, somatic mutations, enhancers, super enhancers, promoters, transcription factors, chromatin states, histone modifications, chromatin accessibility regions and chromatin interactions. This database is a user-friendly interface to query, browse and visualize variations and related annotation information. VARAdb is a useful resource for selecting potential functional variations and interpreting their effects on human diseases and biological processes. Oxford University Press 2020-10-23 /pmc/articles/PMC7779011/ /pubmed/33095866 http://dx.doi.org/10.1093/nar/gkaa922 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Database Issue Pan, Qi Liu, Yue-Juan Bai, Xue-Feng Han, Xiao-Le Jiang, Yong Ai, Bo Shi, Shan-Shan Wang, Fan Xu, Ming-Cong Wang, Yue-Zhu Zhao, Jun Chen, Jia-Xin Zhang, Jian Li, Xue-Cang Zhu, Jiang Zhang, Guo-Rui Wang, Qiu-Yu Li, Chun-Quan VARAdb: a comprehensive variation annotation database for human |
title | VARAdb: a comprehensive variation annotation database for human |
title_full | VARAdb: a comprehensive variation annotation database for human |
title_fullStr | VARAdb: a comprehensive variation annotation database for human |
title_full_unstemmed | VARAdb: a comprehensive variation annotation database for human |
title_short | VARAdb: a comprehensive variation annotation database for human |
title_sort | varadb: a comprehensive variation annotation database for human |
topic | Database Issue |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779011/ https://www.ncbi.nlm.nih.gov/pubmed/33095866 http://dx.doi.org/10.1093/nar/gkaa922 |
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