In summary, we have performed a high resolution genome-wide analysis to characterize the genomic landscape of copy number variation in ASDs. Through comparison of structural variation in 1,771 ASD cases and 2,539 controls and prioritization of events encompassing exons we identified more than 150 loci harboring rare variants in multiple probands but no control individuals. For each class of structural variant interrogated, the recovery of known loci serves to validate the methods employed and results obtained. Greatest confidence should be placed in loci harboring variants in multiple unrelated cases but no controls and also recovered in both screening and replication cohorts. Amongst novel genes, best support was obtained for BZRAP1 and MDGA2, intriguing candidate genes for which additional study is warranted.
It’s a bit dry to read, given that I’m only an amateur at this stuff, but there you have it.
I don’t know how likely it is that Jenny McCarthy et al will now shut the hell up about vaccines, though, despite the facts that a) the guy who first postulated the idea was discredited for falsifying his data, b) all the actual evidence suggests there’s no link between vaccines and autism, and c) now there’s a paper with a good solid chunk of evidence that autism is genetic.
Actually, I do know how likely it is that Jenny et al will shut up. That likelihood is zero. To ten sig figs.
Hat tip Greg Laden for this wonderful news, not only for the fight against antivaxxers, but the search for better treatments of autistic individuals. Yeah!