What types of data are provided with your DNA testing and genome sequencing?

Our 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)

Data is aligned to GRCh38.p14 + rCRS MT and is provided in the following files and formats

  • Paired FASTQ
  • BAM
  • Genome VCF (SNPs + INDELs)
  • CNV VCF
  • SV 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. For more information about this special file, please see the answer ‘Can I upload and use my raw data at third-party sites such as online genealogy and family tree services?’

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