Oxford BioDynamics will work with Italian research institute Casa Sollievo della Sofferenza to identify blood-based biomarkers of autism spectrum disorder.
Researchers found that diagnostic autism NGS panels offered by 21 clinical labs have very little overlap and are working to create a standardized gene list.
Over the next four years, researchers will aim to pinpoint the impact of personal genomic information given to patients with autism and their families.
Researchers explored the role of de novo variants and copy number alterations in the disease using new and existing exome sequences for children with Tourette disorder and their parents.
An analysis on thousands of Japanese individuals with autism spectrum disorder or schizophrenia uncovered shared pathways and an abundance of rare exonic copy number variants.
A study found that cis-regulatory variation modifies the penetrance of coding variants, and that variants' regulatory haplotype configuration affects disease risk.
