What types of data are provided with your DNA testing and genome sequencing?
Our Whole Genome Sequencing service
Sequencing provides complete genome data covering more than 3 billion chromosomal positions, including all autosomes (chromosomes 1–22), the X and Y chromosomes (for males), and the mitochondrial genome (MT).
Because the data is diploid, the total output represents approximately 6 billion genetic positions.
Our sequencing captures and reports on a wide range of genetic variation, including:
-
SNVs/SNPs – single nucleotide variants
-
INDELs – insertions and deletions
-
CNVs – copy number variations
-
SVs – structural variations
All data is aligned to GRCh38.p14 plus rCRS MT and is delivered in the following file formats:
-
Paired FASTQ files (raw reads)
-
Genome VCF (SNPs and INDELs)
-
CNV VCF
-
SV VCF
-
TXT (Ultimate Compatibility File)
DNA reports are available online and most can also be downloaded as PDFs.
Note: The Ultimate Compatibility File is a text-based format designed for broad compatibility with third-party genealogy and family tree websites.
Frequently Asked Questions
Why are multiple file types provided?
Each file format serves a different purpose. FASTQ contains the raw sequencing data, while VCF lists the genetic variants. Together, they provide both the full raw data and the processed insights needed for different stages of analysis.
Are the files large?
Yes. FASTQ files can be very large, often tens to hundreds of gigabytes. VCF files are much smaller, making them easier to store and share.
Which file should I use?
It depends on your goals. FASTQ is ideal if you want access to the original sequencing reads, while VCF is the most practical for everyday genetic analysis since it summarizes meaningful variants.
What is the Ultimate Compatibility File?
The Ultimate Compatibility File is a text-based version of your DNA data formatted for use with third-party websites and tools. It is designed to work seamlessly with genealogy, ancestry, and family tree services, making it easier to explore your data outside of Sequencing.