Whole genome sequencing gives you a complete blueprint of your DNA. When you receive your results, you will have information on more than 3 billion genetic variants, or changes in your genome. Even genes whose purpose are not yet known will be included. This means that years in the future, your sequencing results will still be relevant and applicable to the latest genetic findings.
Sequencing.com makes this potentially life-changing process of whole genome sequencing straightforward and easy to carry out.
A few days after you purchase a whole genome sequencing service from us, we will ship you a collection kit. The kit contains:
- Two swabs
- A vial of special solution that preserves your cell sample during transit
- Pre-addressed packaging for sending your sample directly to the sequencing lab
To collect a DNA sample, you simply swab the inside of each cheek for one minute, put the swabs in the collection vial, and send them to the lab.
At the lab, your sample goes through a multi-step sequencing process:
- Your DNA is extracted from your sample, purified, and tested to ensure it is of sufficient quality and quantity. If it does not meet the minimum required concentration of DNA, it will not be accepted for sequencing, and you will need to take the test over again.
- Your DNA is put through the sequencing machine.
- Numerous quality control checkpoints during the sequencing process ensure the excellence of your DNA data results.
- Your raw DNA data is generated and validated.
- Your DNA data goes through Sequencing.com’s bioinformatics pipeline, which converts the raw data into data that can be analyzed by DNA analysis reports.
Because of the technical complexity and multi-step nature of whole genome sequencing, the standard process typically can take from 10 to 12 weeks once the lab has recieved your sample. If the lab is especially busy, processing time may extend up to 16 weeks.
In addition to standard whole genome sequencing, our team has developed a Premium Expedited whole genome sequencing product that has optimized the process significantly, cutting down on the time it takes to sequence a genome. This breakthrough means we now offer an option for a 3-week turnaround. We are the only direct-to-consumer sequencing company with this fast-result option.
Our whole genome sequencing service will obtain data on 3 billion chromosomal coordinates including all your autosomes (chromosomes 1-22) as well as your X, Y (males only), and MT chromosomes.
All this data will take up about 300 gigabytes across 8 files. It will come in the following file types:
- Paired FASTQ format
Raw Data aligned with reference genome GRCH38
- BAM format
VCF format files with analysis-ready data on the following variants
- SNVs/SNPs (Single Nucleotide Variants)
- INDELs (Insertion Deletion Variants)
- CNVs (Copy Number Variations)
- SVs (Structural Variations)
- Mitochondrial heteroplasmy
Ultimate Compatibility File
- TXT format designed to enable you to upload your data to third-party sites (if you choose to do so)
Enhanced digital genome using One Genome technology
While the different file types can be overwhelming, our One Genome technology will combine them all into one easy-to-use digital genome for you. This will prevent any confusion as to which file to use when you run analyses reports from our enhanced report marketplace.
In addition, we have developed our Ultimate Compatibility File in text format. It is designed for compatibility with third-party DNA analysis and ancestry services including openSNP, WikiTree, GEDmatch, and Promethease. You can also use your Ultimate Compatibility File with third-party sites that accept uploads of DNA data from 23andMe
Your genetics data files are raw data. Don’t worry if they don’t make much sense to you. To many people, raw data looks like scrambled alphabetic letters without meaning.
Raw data is not the same as an analysis report, which takes the raw data and analyzes it in light of a specific purpose, such as looking for genetic markers that indicate susceptibility to breast cancer or checking for recessive gene variants that could result in illness if passed onto offspring.
Analysis reports, such as those in our Enhanced Report Marketplace, will convey their findings in a straightforward way. They are your gateway to understanding and acting on the information contained in your genome.
Our Privacy Forever guarantee means your raw data is yours alone. No one else can access it unless you choose to share it. You will be able to download it whenever you like, to use it in any way you wish, and to delete it at any time.
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of Sequencing.com and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).