dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions.
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions.
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DOI：
10.1002/humu.21517
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发表时间：
2011-08
期刊：
影响因子：
3.9
通讯作者：
Boerwinkle, Eric
中科院分区：
文献类型：
--
作者：
Liu, Xiaoming;Jian, Xueqiu;Boerwinkle, Eric
随着测序技术的进步，全外显子组测序越来越多地被用于识别导致人类疾病，特别是罕见的孟德尔疾病的突变。在分析步骤中，功能预测(有害的)在筛选或优先处理非同义SNP(NS)以供进一步分析时起着重要作用。不幸的是，不同的预测算法使用不同的信息，每种算法都有自己的优点和缺点。有人建议，调查人员应该使用多个算法的预测，而不是依赖单一算法。然而，从不同的数据库/Web服务器为不同的算法查询预测既乏味又耗时，特别是在处理由外显子组测序识别的大量神经网络时。为了促进这一过程，我们开发了DBNSFP(非同义SNP功能预测数据库)。它汇编了四种新的和流行的算法(SIFT、Polyhen2、LRT和MutationTaster)的预测分数，以及人类基因组中每个潜在NS(总计75,931,005个)的保守分数(PhyloP)和其他相关信息。这是用于全面收集人类NSS的第一个综合数据库，其中包括来自多种算法的功能预测。DBNSFP可从http://sites.google.com/site/jpopgen/dbNSFP.免费下载Hum Mutat 32：894-899,2011。©2011 Wiley-Liss，Inc.
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. Hum Mutat 32:894–899, 2011. © 2011 Wiley-Liss, Inc.
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