dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.
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DOI：
10.1002/humu.22932
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发表时间：
2016-03
期刊：
影响因子：
3.9
通讯作者：
Boerwinkle E
中科院分区：
文献类型：
--
作者：
Liu X;Wu C;Li C;Boerwinkle E
dbNSFP的目的是为人类非同义单核苷酸变体（nsSNV）和剪接位点变体（ssSNV）的功能预测和注释提供一站式资源，并促进从外显子组测序研究中发现的大量SNV列表中筛选和优先排序SNV的步骤。创建基于人参考序列的所有潜在nsSNV和ssSNV的列表，为每个SNV策划和编辑功能预测和注释。在这里，我们报告了数据库到3.0版本的最新重大更新。SNV清单已根据GENCODE 22重建，目前数据库包括82 832 027个nsSNV和ssSNV。一个附加的数据库dbscSNV，它汇编了剪接共有区域内所有潜在的人类SNV及其多态性预测，增加了另外15，030，459个潜在的功能SNV。增加了11个预测评分（MetaSVM、MetaLR、CADD、VEST 3、PROVEAN、4× fitCons、fathmm-MKL和DANN）以及来自UK 10 K队列和外显子组聚集联盟（ExAC）等的等位基因频率。更新了v2.0中的原始7个预测评分（SIFT、2× Polyphen 2、LRT、MutationTaster、MutationAssessor和FATHMM）以及许多SNV和基因功能注释。dbNSFP v3.0可从http://sites.google.com/site/jpopgen/dbNSFP免费获得。
The purpose of the dbNSFP is to provide a one-stop resource for functional predictions and annotations for human non-synonymous single-nucleotide variants (nsSNVs) and splice site variants (ssSNVs), and to facilitate the steps of filtering and prioritizing SNVs from a large list of SNVs discovered in an exome-sequencing study. A list of all potential nsSNVs and ssSNVs based on the human reference sequence were created, functional predictions and annotations were curated and compiled for each SNV. Here we report a recent major update of the database to version 3.0. The SNV list has been rebuilt based on GENCODE 22 and currently the database includes 82,832,027 nsSNVs and ssSNVs. An attached database dbscSNV, which compiled all potential human SNVs within splicing consensus regions and their deleteriousness predictions, add another 15,030,459 potentially functional SNVs. Eleven prediction scores (MetaSVM, MetaLR, CADD, VEST3, PROVEAN, 4× fitCons, fathmm-MKL and DANN) and allele frequencies from the UK10K cohorts and the Exome Aggregation Consortium (ExAC), among others, have been added. The original seven prediction scores in v2.0 (SIFT, 2× Polyphen2, LRT, MutationTaster, MutationAssessor and FATHMM) as well as many SNV and gene functional annotations have been updated. dbNSFP v3.0 is freely available at http://sites.google.com/site/jpopgen/dbNSFP.