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Database Commons - dbNSFP

dbNSFP

Citations: 261

z-index 3.73

Short name dbNSFP
Full name database for nonsynonymous SNPs' functional predictions
Description dbNSFP a lightweight database of human nonsynonymous SNPs and their functional predictions.
URL http://sites.google.com/site/jpopgen/dbNSFP
Year founded 2011
Last update & version 2015-11-24    V3.1
Availability Free to all users
University/Institution hosted Human Genetics Center
Address Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
City Houston
Province/State Texas
Country/Region United States
Contact name Xiaoming Liu
Contact email xiaoming.liu@uth.tmc.edu
Data type(s)
Major organism(s)
Keyword(s)
  • nonsynonymous SNP
Publication(s)
  • dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. [PMID: 21520341]

    Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle
    Human mutation 2011:32(8)
    261 Citations (Google Scholar as of 2016-01-26)

    Abstract: With the advance of sequencing technologies, whole exome sequencing has increasingly been used to identify mutations that cause human diseases, especially rare Mendelian diseases. Among the analysis steps, functional prediction (of being deleterious) plays an important role in filtering or prioritizing nonsynonymous SNP (NS) for further analysis. Unfortunately, different prediction algorithms use different information and each has its own strength and weakness. It has been suggested that investigators should use predictions from multiple algorithms instead of relying on a single one. However, querying predictions from different databases/Web-servers for different algorithms is both tedious and time consuming, especially when dealing with a huge number of NSs identified by exome sequencing. To facilitate the process, we developed dbNSFP (database for nonsynonymous SNPs' functional predictions). It compiles prediction scores from four new and popular algorithms (SIFT, Polyphen2, LRT, and MutationTaster), along with a conservation score (PhyloP) and other related information, for every potential NS in the human genome (a total of 75,931,005). It is the first integrated database of functional predictions from multiple algorithms for the comprehensive collection of human NSs. dbNSFP is freely available for download at http://sites.google.com/site/jpopgen/dbNSFP. © 2011 Wiley-Liss, Inc.

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Tags

DNA
Homo sapiens
nonsynonymous SNP

Record metadata

  • Created on: 2015-06-30
  • Curated by:
    • Jian Sang [2015-12-01]
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