The new grant will be used to conduct whole-exome sequencing on 1,000 children participating in an autism spectrum disorder study for the purposes of biomarker development.
A small but significant proportion of autism spectrum disorder cases — particularly those occurring in females — appeared to involve biallelic loss-of function or missense mutations.
With deep learning, researchers profiled de novo noncoding variants in individuals with ASD from nearly 1,800 families, identifying regulatory factors and related pathways.
Single-nuclei RNA sequencing on more than 100,000 brain cells from individuals with or without ASD identified gene expression shifts in certain cell types.
To understand the evolution of brain conditions and other traits, investigators plan to sequence human and pathogen DNA in thousands of samples from Europe.
Researchers used a genome-wide association study to identify seven loci associated with ASD and other conditions, along with five loci linked to ASD alone.
In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.
