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What is an exome? How is it different from a full genome sequence?
Your exome is the 50 million DNA bases of your genome containing the information necessary to encode all your proteins. Informally, you can think of the exome as the DNA sequence of your genes.
Your entire genome is made up of your exome plus other DNA, consisting of three billion bases with repetitive sequences, sequences of unknown function, and DNA that does not code for proteins.
Why sequence my exome?
A person's physical structure, their body's chemical reactions and the expression of their genes are controlled by the proteins encoded in the exome. The vast majority of genetic diseases also hinge on variations in the exome. For these reasons, exome data may be useful for those exploring their personal sequence data.
Exome data are less suitable for ancestry or genealogical research, since they will not provide mitochondrial sequence or much information on the Y chromosome.
How is this different from what 23andMe already offers?
23andMe's current Personal Genome Service® (PGS) analyzes your DNA at over half a million locations in the genome. The PGS® provides more than 200 detailed reports linking different genetic variants to health conditions, traits, and ancestry, as well as connecting people to other users who share DNA.
In contrast, the exome sequencing pilot provides users with raw variant data for about 50 million bases of DNA, without reports. Over time, 23andMe will add a limited set of tools and content that utilize exome sequence data.
Who can take part?
We are offering access to this pilot exclusively to current 23andMe customers. The exome sequencing pilot is the first of its kind, and it is suitable for customers who are comfortable managing and understanding raw genetic data. If you don't know your exons from your introns, this pilot is probably not for you. This is for early adopters and supplies are limited.
What do I get for $999?
You get access to your raw data of 50 million DNA bases at high quality (80X coverage). Over time, you will have access to new tools and content as they are developed to take advantage of your exome sequence data. Most excitingly, you'll be a trailblazer, one of the first people on the planet to know their personal exome sequence!
When does the project start and how do I join?
At this time, the pilot project is full and enrollment is closed. If you are interested in receiving updates about any future sequencing services, please enter your email above. We will contact you about future opportunities.