Two recent papers have been published that both deal with chromosomal aberrations and autism. One paper reports de novo copy number mutations associated with some cases of autism. These are copy number polymorphisms not present in either parent; the mutation arises in the parental germ line, although, I believe it is also possible the mutation happens after fertilization. The other paper presents data using SNPs and copy number variants to map regions of the genome associated with autism risk. I'm not all that interested in the autism component of this research, but the prevalence of structural variants is pretty cool.
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New articles in PLoS Pathogens, PLoS Computational Biology and PLoS Genetics were published on Friday. My picks for this week are:
Influenza Virus Transmission Is Dependent on Relative Humidity and Temperature:
In temperate regions influenza epidemics recur with marked seasonality: in the northern…
The new study identifies 27 loci that have rare copy number variations, where there are more or fewer repeated DNA segments than expected, common to the genomes of several children with autism spectrum disorder. These variations are not present in controls without autism spectrum disorder.
The…
I've gotten some email asking for a simplified executive summary of this paper, so here it is.
A large study of almost a thousand autistic individuals for genetic variations that make them different from control individuals has found that Autism Spectrum Disorder has many different genetic causes…
What a curious paper — it's fine research, and it's a useful dollop of data, but it's simultaneously so 21st century and on the edge of being completely trivial. It's like a tiny shard of the future whipping by on its way to quaintness.
Researchers have for the first time sequenced the genome of an…
Any data on Asperger's? I can't access those papers.
In regards to Asperger's, the Science paper (the one about de nove mutations) includes the following:
and
There isn't much of a mention of Asperger in the Nature Genetics paper (the one about mapping variants associated with autism).