dbNSFP v4.1a

dbNSFP is a database developed for functional prediction and annotation of all potential non-synonymous single-nucleotide variants (nsSNVs) in the human genome. Update information and download links can be found at https://sites.google.com/site/jpopgen/dbNSFP. Webservice, update information, and download links can be found at http://database.liulab.science/dbNSFP. 

Please note some component score/content of dbNSFP has specific requirements or licence for non-academic usage. dbNSFP does not grant the non-academic usage of those scores/contents, so please contact the original score/content providers for that purpose.

dbNSFP v4.1 is released on June 16 2020. BayesDel (https://doi.org/10.1002/humu.23158), ClinPred (https://doi.org/10.1016/j.ajhg.2018.08.005) and LIST-S2 (https://doi.org/10.1093/nar/gkaa288) scores have been added. CADD has been updated to v1.6, CADD score based on hg19 model has been added.  gnomAD genomes have been updated to r3.0: populations AMI (Amish) and SAS (South Asian) have been added; controls have been removed. Clinvar, GTEx have been updated. HPO terms have been added to the dbNSFP_gene. search_dbNSFP programs now support searching SpliceAI (https://doi.org/10.1016/j.cell.2018.12.015) as an attached database, please refer to the readme files of the search_dbNSFP programs for details. 

    Two branches of dbNSFP are provided: dbNSFP4.1a suitable for academic use, which includes all the resources,  and dbNSFP4.1c suitable for commercial use, which does not include Polyphen2, VEST, REVEL, ClinPred, CADD, LINSIGHT, and GenoCanyon.  

    dbNSFP4.1a can be downloaded here from zenodo or from softgenetics ftp or googledrive.

dbNSFP是一款专为人类基因组中所有潜在非同义单核苷酸变异（non-synonymous single-nucleotide variants, nsSNVs）的功能预测与注释而开发的数据库。更新信息及下载链接可通过https://sites.google.com/site/jpopgen/dbNSFP获取；另有官方服务页面、更新信息与下载链接，可访问http://database.liulab.science/dbNSFP查询。

请注意，dbNSFP的部分组分评分与内容对非学术使用设有特定要求或许可限制。dbNSFP不授权此类评分与内容的非学术使用，相关使用需求请联系原始评分/内容的提供方。

dbNSFP v4.1版本于2020年6月16日正式发布。本次更新新增了BayesDel（https://doi.org/10.1002/humu.23158）、ClinPred（https://doi.org/10.1016/j.ajhg.2018.08.005）及LIST-S2（https://doi.org/10.1093/nar/gkaa288）评分项；将CADD更新至v1.6版本，并新增基于hg19模型的CADD评分；gnomAD基因组数据集已更新至r3.0版本，新增AMI（阿米什人）与SAS（南亚人）人群亚组，移除了对照样本；更新了ClinVar、GTEx数据库内容；向dbNSFP_gene数据集添加了人类表型本体（Human Phenotype Ontology, HPO）术语；search_dbNSFP工具现已支持将SpliceAI（https://doi.org/10.1016/j.cell.2018.12.015）作为附属数据库进行检索，详细说明请参阅search_dbNSFP工具的自述文件。

本次发布提供两个分支版本：适用于学术研究的dbNSFP4.1a（包含全部可用资源），以及适用于商业用途的dbNSFP4.1c（未包含Polyphen2、VEST、REVEL、ClinPred、CADD、LINSIGHT及GenoCanyon等评分资源）。

用户可通过Zenodo、SoftGenetics的FTP服务器或Google Drive下载dbNSFP4.1a版本。