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.

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

A new tool that charts large DNA duplications and deletions in single cells may help researchers assess the variants’ contribution to autism.

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.

A surprisingly large proportion of people with autism have complex chromosomal rearrangements that were missed by conventional genetic screening.

A new strategy sharpens the analysis of chemical tags on the DNA-protein complexes that regulate gene expression. The method may help researchers decipher how gene expression goes awry in disorders such as autism.

People with autism are twice as likely to carry alterations in genes that regulate the circadian clock, or the body’s sleep-wake cycle as those without the disorder. The findings may help explain why most children with autism have trouble with sleep.

A new resource reveals that gene expression varies more across tissues in one person than it does in the same tissue type among individuals. The findings, described 8 May in Science, indicate that the brain’s gene expression signature is unique.

A new method simultaneously reveals a single cell’s DNA sequence and which of its genes are turned on.