A pioneering project is showing how, 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing hope to parents around the world.

Software to identify genetic variants, along with a new synthetic human genome, could help scientists discover mutations associated with conditions such as autism.

To find variants between genes that contribute to autism, researchers may need thousands more whole genomes than they have now.

The gene-editing tool CRISPR may cause thousands of off-target mutations, but critics say it’s way too soon to accuse it of infidelity.

A new analysis of the genomes of more than 11,000 people reveals regions that have few mutations, indicating they have important functions.

Some children with autism inherit rare mutations in noncoding DNA from their unaffected fathers.

A single gene, OTUD7A, may account for most of the features seen in people missing a segment of chromosome 15 known as 15q13.3.

A new map of DNA structure highlights sequences that regulate the formation of neurons in the developing brain.

This year’s list of top papers highlights nuances in the genetics of autism and new leads on early treatment.

We waded through the sea of autism studies published in 2017 and spotted several themes.