Advanced sequencing methods can detect spontaneous genetic changes that show up in only a small subset of a person’s cells, suggest two new studies published in August. Despite their low prevalence in the body, these so-called ‘somatic mosaic mutations’ occur frequently in people and may be important contributors to brain disorders.

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

CHD8, a gene that regulates the structure of DNA, is the closest thing so far to an ‘autism gene,’ suggests a study published today in Cell. People with mutations in this gene all have the same cluster of symptoms, including 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.

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.

CHD8, a gene that has emerged as one of the strongest risk factors for autism, regulates the expression of more than half of a set of ‘high-confidence’ risk genes for the disorder. The unpublished data were presented Saturday at the 2014 International Meeting for Autism Research in Atlanta.

Researchers have sequenced hundreds of human and mouse genomes to generate an atlas of more than 200,000 regions that regulate gene expression, they reported 27 March in Nature.

Certain DNA repeats that increased exponentially during human evolution are directly related to the severity of autism symptoms, according to a preliminary study published 20 March in PLoS Genetics.

A new statistical system ranks the potential harm done by each of the nearly 9 billion possible variants in the human genome, researchers reported in March in Nature Genetics.