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.
Using exome data from Alzheimer's disease cases and controls with or without the APOE4 risk allele, investigators identified potential risk-stratifying variants.
The trials are part of the second phase of the Implementing Genomics in Practice program, which is slated to receive $42 million in funding over 5 years.
With deep learning, researchers profiled de novo noncoding variants in individuals with ASD from nearly 1,800 families, identifying regulatory factors and related pathways.
With a large genome-wide association study, researchers identified several significant associations in PDE4B, a gene with expression shifts in brain samples from stressed mice.
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.
Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
Prescient will further the development and commercialization of the Infiniti Neural Response Panel to identify patients who may be at risk for opioid use disorder.
To understand the evolution of brain conditions and other traits, investigators plan to sequence human and pathogen DNA in thousands of samples from Europe.
The researchers plan to analyze clinical records and genetic data from whole-exome sequencing for more than 3,000 patients using DNAnexus' Apollo platform.
Researchers focused in on strong candidate genes in schizophrenia with brain anatomy, brain activity, and behavioral screens on a large set of zebrafish mutants.
With available brain data, researchers came up with expression prediction models for finding new schizophrenia-related genes in a larger case-control set.
