Jay Flatley, CEO of sequencing giant Illumina, announced at the Consumer Genetics Conference today that the company had reduced the price of its retail whole-genome sequencing service. At $19,500 this still isn't in the realm of an impulse buy for most of us, but it's a long way down from the $48,000 that Illumina offered at the launch of its service, and more than an order of magnitude below the $350,000 price paid for the first ever retail genome.
100 USD Genome, 1,000,000 USD Genome Interpretation as per Dr Rehm, Harvard.
Under HIPAA, patients have the right to a copy of their medical records, so people should still have access to their Illumina-sequenced genomes.
One thing that interests me about this method - it potentially escapes patent licenses on genetic tests. As long as Illumina just delivers raw data, they haven't broken any patents. At this point, it's just a database match against known disease associated alleles, and free software is available to the physican/patient for that. To make a formal diagnosis and proceed to treatment, they would probably still have to confirm by ordering the specific test from a licensed lab to keep the health and malpractice insurance companies happy though.
Too bad it only applies to human genomes. We're still having all sorts of problems sequencing some species (assembly just fails), much less a having cheap-ish sequencing for doing population genetics.
Too bad it only applies to human genomes. We're still having all sorts of problems sequencing some species (assembly just fails)...
If this is the case I'm not so sure Illumina is going to help you tremendously. Without a reliable reference, even the comparatively longer Illumina reads are still rather short and will have trouble mapping de novo.
I'm afraid you're going to have to go 454 or good old shotgun/BAC end-pair Sanger sequencing (or both) to get what you need.
travc -- assembly "just fails" meaning what?
No contigs of any size?
Or contigs that don't overlap enough?
Is your species so far away on the tree of sequenced genomes that you don't have even a few trial reference genomes?