Long-read genome sequencing reveals autism gene variants and structural changes, helping explain missing heritability and advancing precision diagnostics.

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencin ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Advanced genome sequencing is uncovering hidden autism gene variants, opening new possibilities for earlier diagnosis and future targeted therapies.