ABSTRACT
Sequence variants called by variant callers are stored in Variant Call Format (VCF) files. VCF files can represent genotype information on one or more samples for each position. VCF files have two main sections, a meta-information section and a data section, that are separated by the column header line. The purpose of the meta-information section is to provide background information about the analysis results provided in the data section. For instance, VCF files used to record variants in WES/WGS studies contain definitions for the FORMAT field in the meta-information section describing genotypes and genotype qualities. Each line of the data section contains a single FORMAT field and one genotype field for each of the samples represented in the VCF file. The FORMAT lines of the meta-information section explain the abbreviations used in the FORMAT and genotype fields of the data section and are thus similar to the INFO lines.
