The variant call format and VCFtools
The variant call format and VCFtools
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DOI：
10.1093/bioinformatics/btr330
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发表时间：
2011-08-01
期刊：
影响因子：
5.8
通讯作者：
Durbin, Richard
中科院分区：
文献类型：
--
作者：
Danecek, Petr;Auton, Adam;Durbin, Richard
变异识别格式（VCF）是一种通用格式，用于存储DNA多态性数据，如SNP、插入、缺失和结构变异，以及丰富的注释。VCF通常以压缩方式存储，并且可以被索引以用于从参考基因组上的一系列位置快速检索变体的数据。该格式是为1000基因组计划开发的，也被其他项目采用，如UK10K，dbSNP和NHLBI外显子组计划。VCFtools是一个软件套件，它实现了处理VCF文件的各种实用程序，包括验证，合并，比较，还提供了一个通用的Perl API。
The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was developed for the 1000 Genomes Project, and has also been adopted by other projects such as UK10K, dbSNP and the NHLBI Exome Project. VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API.