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Autistic Aberrations

By evolgen on April 17, 2007.

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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genomics

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