23andMe has started a pilot program that offers full exome sequencing for $999. While the company’s regular personal genome service uses Illumina genotyping arrays with around 1 million SNPs (single nucleotide polymorphisms), the exome sequencing actually sequences around 50 million DNA bases with 80x coverage, giving you access to your actual genetic code. The exome is the part of the genome formed by exons that is actually expressed, resulting in protein synthesis and other gene products. Amazingly, this functional part comprises only 1.5 percent of the whole human genome.
For now, exome sequencing will be offered as a pilot program to existing customers only. Customers will get the raw data, without any additional reports, so it will only be useful to people who actually know how to handle this raw genetic data. 23andMe plans to eventually add a limited set of tools and content that utilize exome sequence data.
23andMe is not the first company to offer whole-genome sequencing to consumers, Knome beat them to that, but it is the first to do so at a sub-$1000 pricepoint. Not quite the hotly anticipated 100 dollar genome yet, but for hardcore bioscientists who know their way around raw genetic data, this is as good a deal as you can currently get.
Flashback: Knome Personal DNA Sequencing Services…