Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.
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DOI：
10.1038/nprot.2015.105
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发表时间：
2015-10
期刊：
影响因子：
14.8
通讯作者：
Wang K
中科院分区：
文献类型：
--
作者：
Yang H;Wang K
测序技术的最新发展使快速和高通量生成序列数据成为可能，使在单个实验室中汇编大量遗传变异信息的能力民主化。然而，原始测序数据的生成与有意义的生物信息的提取之间的差距越来越大。本文描述了一种使用ANNOVAR （ANNOtate VARiation）软件对人类基因组生成的变体调用格式（VCF）文件进行快速、简便的变体注释的协议，包括基于基因的、基于区域的和基于过滤器的注释。我们进一步描述了一个新测序的非人类物种的基于基因的注释协议。最后，我们描述了如何使用一个用户友好且易于访问的web服务器wANNOVAR来优先考虑孟德尔病的候选基因。变体注释协议需要5-30分钟的计算机时间（取决于变体文件的大小）和5-10分钟的动手时间。总之，通过命令行工具和web服务器，这些协议提供了一种方便的方法来分析人类和其他物种产生的遗传变异。
Recent developments in sequencing techniques have enabled rapid and high-throughput generation of sequence data, democratizing the ability to compile information on large amounts of genetic variations in individual laboratories. However, there is a growing gap between the generation of raw sequencing data and the extraction of meaningful biological information. Here, we describe a protocol to use the ANNOVAR (ANNOtate VARiation) software to facilitate fast and easy variant annotations, including gene-based, region-based and filter-based annotations on a variant call format (VCF) file generated from human genomes. We further describe a protocol for gene-based annotation of a newly sequenced nonhuman species. Finally, we describe how to use a user-friendly and easily accessible web server called wANNOVAR to prioritize candidate genes for a Mendelian disease. The variant annotation protocols take 5–30 min of computer time, depending on the size of the variant file, and 5–10 min of hands-on time. In summary, through the command-line tool and the web server, these protocols provide a convenient means to analyze genetic variants generated in humans and other species.