Full genome sequencing may help identify autism risk

Researchers have identified several new genetic mutations that seem to be linked to autism spectrum disorder, using a method that looks at the entire DNA code of affected individuals.
An international consortium of researchers has investigated the genetic variants in 32 families with Autism Spectrum Disorder (ASD).
The results show that whole genome sequencing and analysis promise great value to identify de novo or rare inherited mutations that give rise to autism in ASD groups.
Researchers surveyed all the risk mutations in ASD patient groups by whole genome sequencing (WGS), and try to fully describe the genetic architecture of autism.

The results may give critical insight into the molecular and cellular processes that may be preferentially targeted for disruption by genetic lesions in autism patients.
The study shows that the proportions of deleterious de novo mutations and X-linked or autosomal inherited alterations are higher than the previous reports with 19 per cent and 31 per cent, respectively.

Researchers speculated the partial reason maybe the more comprehensive and uniform coverage afforded by WGS. Compared to exome sequencing technology, WGS also shows great advantages in efficiency and accuracy.
"From diagnosis to treatment to prevention, whole genome sequencing efforts like these hold the potential to fundamentally transform the future of medical care for people with autism," said study co-author Robert Ring.

The findings were published in American Journal of Human Genetics.