KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
Price? Cost? Whatever...
September 01, 2010
Mike the Mad Biologist came across a Nature Reviews Genetics article that says that hundreds of gigabases of sequencing data can be generated in a week "for less than US$5,000." Mike says could be true, with a lot of caveats. Buying a machine, he says, would be at least $500,000 and, if amortized over about two years, that could come out to be about $5,000 per 200Gb. In addition there's the cost of paying people to run those machines, which he arbitrarily puts at $150,000 per year for two people. "I'm willing to go along with the costs of reagents plus minimal ancillary costs, such as electricity, running around $5,000. Maybe," Mike says. "And if that's all you have to write your purchase or billing order for, then the price of sequencing is around $5,000. But the cost, including the externalized costs, is much more."
Moreover, if you just
Moreover, if you just outsource the sequencing then your supplier has to cover his infrastructure costs similarly, plus possibly a profit markup. Real costs to scientific users are still high, though obviously orders of magnitude less than five years ago.