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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...

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Detalles Bibliográficos
Autores principales: Wu, Jiaxin, Wu, Mengmeng, Li, Lianshuo, Liu, Zhuo, Zeng, Wanwen, Jiang, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
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.
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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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