Fig 1.
Percentage of exonic regions covered at a read depth ≥ 5, an alignment score ≥ 10, a basecall quality ≥ 10 from WGS subsets of the original full set with different average X-fold coverage values.
Table 1.
Concordance of genotypes represented in VCF and gVCF files with those detected by the MI RISK Plus kit.
Table 2.
Genotyping of GWAS catalog sites using the VCF and gVCF file formats and the number of homozygous reference sites and no-calls based on WGS data.
Table 3.
Genotyping of known SNPs from dbSNP 141 using the VCF and gVCF file formats and the number of homozygous reference sites and no-calls based on WGS data.
Table 4.
Genotyping of known SNPs from ClinVar using the VCF and gVCF file formats and the number of homozygous reference sites and no-calls based on WGS data.
Table 5.
Comparison of the content and size of different standard file formats for the storage of genomic data.
Table 6.
Compatibility of the eVCF file format with different variation analysis suites.
Table 7.
Comparison of the number of dbSNP, ClinVar and GWAScat sites represented using VCF, gVCF and eVCF files.