A massive update to the MSSNG dataset gives qualified researchers ready access to explore autism’s genetic architecture on a cloud-based platform.

Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.

Work in fruit flies has helped Paul decode a neurodevelopmental syndrome in children caused by rare de novo variants in the gene PPFIA3.

The gene, YTHDF2, has not previously been linked to autism.

The rare variants are also linked to ADHD and Tourette syndrome, two other conditions that disproportionately affect boys and men.

The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

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 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.

Siblings of autistic females are more likely to have autism than siblings of autistic males are, and mothers of autistic children carry more common, autism-linked variants than fathers do.