23andMe just launched their new programme to perform exome sequencing for individuals. The Exome80 “Personal exome sequencing” will cost just $999! This will now put pressure on some of those who have had their genomes scanned on arrays to pay up for the exome or risk being the social outcast in California high society. In fact 23andMe state on their website “Most excitingly, you’ll be a trailblazer, one of the first people on the planet to know their personal exome sequence” that’s hamming things up if ever I heard it.

The previous service (which I just signed up to) only scans 1M SNPs. The exome sequencing will provide users sequence data over about 50 million bases of DNA at 80 fold coverage. There will not be any of the very well designed reports that are given with SNP data though, just sequences and variants. This means only those with the skills to access this data will get anything useful out of it and it is debatable what ‘useful’ means in this context. There is certainly not the same depth of information available on exome variants and linkage to disease.

It sounds like 23andMe will develop tools and so will the community. I expect the Genomes Unzipped team will all be in the first batch of samples, hopefully paid for by 23adndMe. Most of these, if not all, are already customers who are “comfortable managing and understanding raw genetic data” as stated on the 23andMe press release. The release also assays “If you don’t know your exons from your introns, this pilot is probably not for you,”. I think most undergrads know about exons and introns and they certainly could not do a huge amount with raw data.
This could of course be a great opportunity for a grad school programme to develop tools and interpretations as the data could be shared out across classes.

23andMe’s description of what an exome is fails to mention regulatory sequences at all. While they do say “you can think of the exome as the DNA sequence of your genes” and “Your entire genome is made up of your exome plus…DNA that does not code for proteins”.The dropping of regulation may seem trivial to a lay person but is becoming increasingly important for biologists. Where are the regulome capture products!

PS: if anyone from 23andMe is reading this and wants to send me an early birthday present my DNA is ready for sequencing on my desk. Courtesy of an Oragene freebie at a conference. It’s amazing what you can pick up for free nowadays.