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dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions
The recent advancement of the next generation sequencing technology has enabled the fast and low-cost detection of all genetic variants spreading across the entire human genome, making the application of whole-genome sequencing a tendency in the study of disease-causing genetic variants. Nevertheles...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795934/ https://www.ncbi.nlm.nih.gov/pubmed/26989155 http://dx.doi.org/10.1093/database/baw024 |
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author | Wu, Jiaxin Wu, Mengmeng Li, Lianshuo Liu, Zhuo Zeng, Wanwen Jiang, Rui |
author_facet | Wu, Jiaxin Wu, Mengmeng Li, Lianshuo Liu, Zhuo Zeng, Wanwen Jiang, Rui |
author_sort | Wu, Jiaxin |
collection | PubMed |
description | The recent advancement of the next generation sequencing technology has enabled the fast and low-cost detection of all genetic variants spreading across the entire human genome, making the application of whole-genome sequencing a tendency in the study of disease-causing genetic variants. Nevertheless, there still lacks a repository that collects predictions of functionally damaging effects of human genetic variants, though it has been well recognized that such predictions play a central role in the analysis of whole-genome sequencing data. To fill this gap, we developed a database named dbWGFP (a database and web server of human whole-genome single nucleotide variants and their functional predictions) that contains functional predictions and annotations of nearly 8.58 billion possible human whole-genome single nucleotide variants. Specifically, this database integrates 48 functional predictions calculated by 17 popular computational methods and 44 valuable annotations obtained from various data sources. Standalone software, user-friendly query services and free downloads of this database are available at http://bioinfo.au.tsinghua.edu.cn/dbwgfp. dbWGFP provides a valuable resource for the analysis of whole-genome sequencing, exome sequencing and SNP array data, thereby complementing existing data sources and computational resources in deciphering genetic bases of human inherited diseases. |
format | Online Article Text |
id | pubmed-4795934 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-47959342016-03-21 dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions Wu, Jiaxin Wu, Mengmeng Li, Lianshuo Liu, Zhuo Zeng, Wanwen Jiang, Rui Database (Oxford) Database Tool The recent advancement of the next generation sequencing technology has enabled the fast and low-cost detection of all genetic variants spreading across the entire human genome, making the application of whole-genome sequencing a tendency in the study of disease-causing genetic variants. Nevertheless, there still lacks a repository that collects predictions of functionally damaging effects of human genetic variants, though it has been well recognized that such predictions play a central role in the analysis of whole-genome sequencing data. To fill this gap, we developed a database named dbWGFP (a database and web server of human whole-genome single nucleotide variants and their functional predictions) that contains functional predictions and annotations of nearly 8.58 billion possible human whole-genome single nucleotide variants. Specifically, this database integrates 48 functional predictions calculated by 17 popular computational methods and 44 valuable annotations obtained from various data sources. Standalone software, user-friendly query services and free downloads of this database are available at http://bioinfo.au.tsinghua.edu.cn/dbwgfp. dbWGFP provides a valuable resource for the analysis of whole-genome sequencing, exome sequencing and SNP array data, thereby complementing existing data sources and computational resources in deciphering genetic bases of human inherited diseases. Oxford University Press 2016-03-17 /pmc/articles/PMC4795934/ /pubmed/26989155 http://dx.doi.org/10.1093/database/baw024 Text en © The Author(s) 2016. Published by Oxford University Press. 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 Tool Wu, Jiaxin Wu, Mengmeng Li, Lianshuo Liu, Zhuo Zeng, Wanwen Jiang, Rui dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions |
title | dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions |
title_full | dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions |
title_fullStr | dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions |
title_full_unstemmed | dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions |
title_short | dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions |
title_sort | dbwgfp: a database and web server of human whole-genome single nucleotide variants and their functional predictions |
topic | Database Tool |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795934/ https://www.ncbi.nlm.nih.gov/pubmed/26989155 http://dx.doi.org/10.1093/database/baw024 |
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