Data source | Data type | Extracted information |
---|---|---|
Annotated variant files | Annotation | Chromosome, start position, end position, reference allele, alternative allele, allele frequency in the 1000 Genome Project and the NHLBI-ESP6500 project, ClinVar, biological function (such as SIFT, PolyPhen and CADD score) and many others |
VCF files | Variation | Sample family ID, individual ID, called variant genotypes, read depths and Phred quality scores |
BAM files | Coverage (read depth) | Coverage of each site of every sequencing sample (∼3 billion sites in a WGS) |
WGS, whole-genome sequencing.