Brian O’Roak has helped to steer some of the largest, most complex studies of autism genetics to date.

Here’s a rundown of five trending topics that are turning traditional assumptions about autism on their head.

A new tool trawls sequencing data to reveal single-letter DNA swaps within large duplications.

Two massive efforts to sequence the DNA of more than 11,000 people together provide the most detailed picture yet of genetic variation in the general population.

Analyzing thousands of sequences, researchers have homed in on miniscule portions of the genome that may be crucial in determining autism risk.

These short reports from our reporter, Jessica Wright, give you the inside scoop on developments at the 2015 American Society of Human Genetics Annual Meeting.

Researchers in Sweden are assembling a large group of identical twin pairs, with only one twin in each pair having autism.

Two studies prioritize autism risk genes for further research and illuminate how different types of mutations may work together.

Combining two genetic tests with a physical exam may flag young children at risk for autism years earlier than behavioral assessments do.

A new computer program predicts the effects of mutations in regions of the genome that control gene expression. Researchers can use the tool, called DeepBind, to gauge whether autism-linked mutations might block the genetic landing strips for regulatory proteins.