The new tool may help researchers reconstruct the sequence of biological events that underlie development.

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.

The method, called Orgo-Seq, reveals that a deletion of genes on chromosome 16 increases the proportion of immature neurons and neural precursors in brain organoids derived from people with the mutation.

About 15 percent of genes currently included in clinical genetic tests for autism or intellectual disability don’t have enough evidence to support their ties to the conditions, the panel found.

The vast stretches of DNA that don’t code for proteins could fill key knowledge gaps about autism genetics. But making sense of it all won’t be easy.

Different combinations of common, rare, inherited and spontaneous mutations may explain why traits vary so widely among autistic people.

The DNA specific to mitochondria is difficult to access, but new methods place its secrets within reach.

Autism may involve different levels of RNA isoforms encoded by genes in the brain, which express many more proteins than previously thought.

As 2021 comes to a close, Spectrum recaps some of the biggest trends in autism science this year: studies of sex differences, noncoding regions of the genome and points of convergence, as well as efforts to improve screening and participatory research.