Our Whole Genome Sequencing Service
Our 30x Whole Genome Sequencing service obtains data on 3 billion chromosomal coordinates including all autosomes (chromosomes 1-22) as well as the X, Y (males only), and MT chromosomes.
Since diploid data is provided, the total amount of data obtained is on approximately 6 billion chromosomal coordinates.
Obtains data on
- SNVs/SNPs (single nucleotide variants)
- INDELs (insertion and deletion variants)
- CNVs (copy number variations)
- SVs (structural variations)
- Mitochondrial heteroplasmy
Data is aligned to GRCh38 + rCRS MT and is provided in the following files and formats
- Paired FASTQ
- BAM
- Genome VCF (SNPs + INDELs)
- CNV VCF
- SV VCF
- MITO VCF
- TXT (Ultimate Compatibility File)*
DNA reports are available online and most can be downloaded as PDFs.
* The Ultimate Compatibility File is a universally compatible txt file designed to work with third-party sites.