dbNSFP v4:一个全面的人类非同义突变和剪接位点 SNVs 转录体特异性功能预测和注释数据库。

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs.

机构信息

USF Genomics & College of Public Health, University of South Florida, Tampa, FL, USA.

Department of Computer Science and Engineering, College of Engineering, University of South Florida, Tampa, FL, USA.

出版信息

Genome Med. 2020 Dec 2;12(1):103. doi: 10.1186/s13073-020-00803-9.

Abstract

Whole exome sequencing has been increasingly used in human disease studies. Prioritization based on appropriate functional annotations has been used as an indispensable step to select candidate variants. Here we present the latest updates to dbNSFP (version 4.1), a database designed to facilitate this step by providing deleteriousness prediction and functional annotation for all potential nonsynonymous and splice-site SNVs (a total of 84,013,093) in the human genome. The current version compiled 36 deleteriousness prediction scores, including 12 transcript-specific scores, and other variant and gene-level functional annotations. The database is available at http://database.liulab.science/dbNSFP with a downloadable version and a web-service.

摘要

全外显子测序在人类疾病研究中得到了越来越广泛的应用。基于适当的功能注释进行优先级排序已成为选择候选变异的不可或缺的步骤。本文介绍了 dbNSFP(版本 4.1)的最新更新,该数据库旨在通过为人类基因组中所有潜在的非同义突变和剪接位点 SNV(共计 84,013,093 个)提供致病变异预测和功能注释,来简化这一步骤。当前版本共编译了 36 种致病变异预测评分,包括 12 种转录本特异性评分,以及其他变异和基因水平的功能注释。该数据库可在 http://database.liulab.science/dbNSFP 上获取,提供可下载版本和网络服务。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a12/7709417/7322b4be1b2b/13073_2020_803_Fig1_HTML.jpg

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