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.

How many cell types does the brain contain? Two new mouse studies bring scientists closer to the answer.

A new tool can predict a genetic problem called ‘haploinsufficiency’ in which a mutation impairs the function of one copy of a gene.

A new method enables researchers to assess the biological impact of thousands of subtle mutations.

A new map reveals the routes of individual neurons in visual regions of the mouse brain.

A patent on variants in an autism gene is unlikely to hold up in court, but may still hinder research, some experts say.

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.