A large genome-wide association meta-analysis and follow-up analyses revealed eight risk loci involving SNPs previously associated with body traits, metabolism, and psychiatric risk.
Of participants with high genetic risk, 1.13 percent with a favorable and 1.78 percent with an unfavorable lifestyle developed dementia over a median eight years.
Individuals with Alzheimer's disease are enriched for somatic mutations in brain tissue that affect tau-related pathways, as compared to unaffected individuals.
The researchers found that dark regions impact more than 700 protein-coding genes and also identified a novel mutation in a known Alzheimer's disease gene.
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.
The firm is validating two biomarkers that it hopes will stratify patients for its investigational drug for pediatric minimally verbal autism.
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.
Following its departure from the European Union, the UK is to implement a fast-track visa program aimed at attracting scientific talent to Britain, according to BBC News.
ScienceInsider reports that researchers in Brazil are concerned that a creationist was chosen to run the agency that oversees graduate study programs there.
The Washington Post reports that researchers are quickly analyzing the coronavirus that has been causing illness and sharing their findings.
In PLOS this week: common variant associated with BMI in Arctic populations, analysis of microRNA markers associated with being born small for gestational age, and more.