autistic disorder

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.

Research presented at the Intelligent Systems for Molecular Biology conference shows promise in uncovering more SNP-phenotype links in GWAS.

This Week in PLOS

In PLOS this week: sequences influencing yeast prion aggregation or degradation, dengue virus genetic variants affect transmission dynamics, and more.

Researchers have used gene editing to reduce repetitive behaviors linked to autism in a mouse model of the condition, the Telegraph reports.

DNAstack will help Autism Speaks add a data discovery portal and data-sharing features to the research platform, and integrate it with bioinformatics workflows.

The multi-year renewal includes DNA Genotek's Oragene-Dx saliva kits and GenoFIND services for custom collection kit packaging and order fulfillment services.

Researchers searched exome sequences of more than 100,000 individuals for associations to more than a dozen quantitative human traits and 10 diseases.

This Week in Science

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

Researchers found that children with autism are more likely to inherit cis-regulatory structural variants from their fathers than their unaffected siblings.

Pages

An analysis of UK Biobank data finds hemochromatosis to be more prevalent than thought, according to the BBC.

An analysis finds that female biomedical researchers receive fewer prizes than male ones, and when they do win prizes, they are less prestigious.

Federal researchers tell the Los Angeles Times that the shutdown is causing missed research opportunities as they try to keep their experiments going.

In Nature this week: improved genomic analysis using a graph genome reference, tumor mutational burden could predict clinical response to immune checkpoint inhibitors, and more.