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.
The study aims to identify individuals with mutations in Parkinson's disease-associated genes for further analysis.
An epigenome-wide association study of major psychosis uncovered hypomethylation at an enhancer that targets a gene involved in dopamine synthesis.
The Massachusetts Institute of Technology-led team uncovered cell-type-specific transcriptional changes that occur early on in disease development.
A GWAS involving more than 50,000 cases and controls revealed 10 known and 20 new risk loci, including loci with apparent ties to disease subtypes.
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.
The researchers uncovered disease-linked genes that are expressed in certain cells and disease stages and discovered various gene expression modules.
Researchers focused in on strong candidate genes in schizophrenia with brain anatomy, brain activity, and behavioral screens on a large set of zebrafish mutants.
The researchers plan to study how infectious pathogens influenced the evolutionary history of certain mental and neurological disorders.
With available brain data, researchers came up with expression prediction models for finding new schizophrenia-related genes in a larger case-control set.
The findings implicated immune response, lipid metabolism, tau binding proteins, and amyloid precursor protein metabolism pathways in disease risk.
Free genetic testing on a broad gene panel is available to children, from birth to five years old, if they've had an unprovoked seizure.
Retraction Watch reports that a paper was pulled because it refers to a gene that doesn't exist in mice.
Researchers were able to generate fertilized northern white rhinoceros eggs, according to Mashable.
Former Orig3n employees raise concerns about its testing at Bloomberg Businessweek.
In PLOS this week: microRNA expression changes in hepatocellular carcinoma, real-time PCR-based approach for diagnosing schistosomiasis, and more.