Researchers have put together a set of strategies and computer programs to identify mutations in mitochondrial DNA that contribute to disorders such as autism.

DNA extracted from saliva is just as useful for sequencing genes as is DNA from blood cells, according to a report published in April in BMC Genomics. The easy and inexpensive method would be a boon for studies that need to sequence large numbers of people.

Researchers have identified nearly 4,000 genetic regions that may be critical for brain function, and harbor mutations involved in disorders such as autism, they reported 25 May in Nature Genetics.

Chris Gunter and Daniel MacArthur discuss guidelines for assessing the evidence that a genetic variant causes autism or another disorder.

A teenage girl with Rett syndrome has a mutation in WFR45, a gene that is mutated in people who abruptly lose motor and mental skills in adulthood, according to a study published 13 March in the Journal of Human Genetics.

Researchers have mapped interactions between hundreds of variants of proteins made from known autism risk genes, they reported 11 April in Nature Communications. The highly connected network reveals that autism genes tend to interact with each other and with many more partners than suspected.

Mutations in a gene associated with DNA packaging may lead to autism and intellectual disability, suggests a study published 16 February in Nature Genetics.

Watch the complete replay of Joseph Gleeson explaining how DNA sequencing can help find treatments, including dietary supplements, for rare types of autism.

It takes more mutations to trigger autism in women than in men, which may explain why men are four times more likely to have the disorder, according to a study published 26 February in the American Journal of Human Genetics.

Autism researchers have high hopes for a new project called the First 1,000 Days of Life, which aims to follow 5,000 women and their babies from pregnancy through two years after birth.