A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.

Many genes in a brain region implicated in autism change expression patterns in late fetal development, depending on differences in neighboring DNA.

A new technique detects rare mutations that occur in only a subset of the body’s cells.

The number of top autism genes has risen from 65 to 102, based on an analysis of more than 35,000 sequences. And researchers are seeing the first hints of autism risk variants in the regions between genes.

A new reference genome includes sequences collected from people around the globe, plugging major gaps in the current one.

Researchers have identified mutations within regulatory regions that are likely to contribute to autism, using a speedy system of DNA ‘barcodes.’

An analysis of whole-genome sequences from nearly 500 families has implicated 16 new genes in autism.

As prenatal testing improves, it presents a host of thorny issues — from what to test and how to interpret the results, to what to do about them.

Spontaneous mutations that occur between genes may be as important in autism as those within genes.

A website called GeneMatcher has helped researchers identify a new gene for intellectual disability, developmental delay and autism.