Work

Illuminating hidden genetic architecture in autism

Year: 2026

Type: article

Abstract: Structural and repeat variation relevant to autism has remained largely inaccessible to short-read sequencing. Using long-read genome sequencing, a recent study reveals previously hidden variants at scale, quantifies their contribution to autism risk, and links them to gene regulatory disruption in neurodevelopment, expanding the mutational and mechanistic landscape of autism.

Source: Cell Genomics

DOI: 10.1016/j.xgen.2026.101248

Author: Maria H. Chahrour

Institution: The University of Texas Southwestern Medical Center

Language: English

Topic: Autism Spectrum Disorder Research

Subfield: Cognitive Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $8,900