By combining pedigree information with sequencing data, a new software tool helps focus on genetic variants likely to be responsible for disease, researchers reported 10 October in Bioinformatics.

By merging genetic data from two large clinical repositories, from a total of more than 30,000 children, researchers have identified 18 copy number variants (CNVs) — DNA deletions or duplications — that play a role in autism. The findings appeared 9 October in Molecular Psychiatry.

Two healthcare organizations have pooled their data to create a registry of 20,000 people with autism, a resource that may help speed up clinical trials and other research.

Researchers are assembling a virtual reconstruction of the brain by piecing together simulations of thousands of neurons, they reported 16 October in the Proceedings of the National Academy of Sciences. They used this model to show that most junctions between neurons form randomly and not as the result of chemical signals.

A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.

Babies later diagnosed with autism tend to have a heightened response to sights and sounds in their first year of life, and smile and cuddle less as toddlers than controls do, according to a paper published 24 August in the Journal of Autism and Developmental Disorders.

An analysis of the expression patterns of 26 autism candidate genes identifies 4 whose expression coincides in a part of the cerebellum, according to research presented at the 2012 Society for Neuroscience annual meeting in New Orleans.

One of the challenges for brain imaging is generating data from enough people to draw conclusions about the subtle features of a disorder. In a video interview at the 2012 Society for Neuroscience annual meeting, Randy Buckner shared images made by combining the brain activity of 1,000 individuals.

Sharing data and tools is universally efficient, but the study of autism in particular presents challenges that can benefit from an open-science framework, says Randy Buckner.

Researchers have developed an index that can predict the age of developing interneurons, which inhibit signals in the brain, according to a study published 24 August in PLoS One. They then used this measurement to show that interneurons are immature in autism brains.