ASHG 2013

Recurrent mutations up risk of autism, related disorders

Autism, epilepsy and intellectual disability share certain risk genes, and mutations in these genes recur in multiple individuals. The preliminary results were presented Friday at the American Society of Human Genetics Meeting in Boston, Massachusetts.

By Jessa Netting
29 October 2013 | 3 min read

Hopping gene destabilizes autism-linked chromosomal region

Researchers have found the first direct evidence that a hopscotching gene destabilizes the 15q13.3 chromosomal region, and may be to blame for the region’s role in autism and other brain disorders. They presented the unpublished results Wednesday at the American Society of Human Genetics Meeting in Boston, Massachusetts.

By Jessa Netting
28 October 2013 | 3 min read

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Data access changes to UK Biobank stir unease in neuroscientists

“I feel a little bit in limbo,” says neuroscientist Stephanie Noble, who has paused a study using Biobank data after the repository shifted from a data download to a cloud-only access model.

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