Using data from the Simons Simplex Collection, researchers estimated that 5 percent of autism spectrum disorder cases may involve mosaic de novo mutations.
In Nature this week: whole-genome sequencing of plasma DNA to study cancer gene expression, and more.
They found that hippocampal long-term potentiation triggered changes in protein signaling, including to a number of proteins linked to these disorders.
In Nature this week: loci linked to major depressive disorder, and more.
A comparative genomic study identified human-specific duplications at a chromosome 16p11.2 region implicated in autism and other conditions.
Princeton University researchers uncovered hundreds of candidate autism risk genes and validated them in a large sequencing study.
The Simons Foundation Autism Research Initiative developed a web-based framework enabling patients and families to enroll and submit DNA samples from their homes.
Researchers characterized structural variants using whole-genome sequence data for individuals with autism spectrum disorder and their unaffected siblings and parents.
In Nature this week: variants linked to autism may also influence social behaviors across the population, and more.
A new analysis uncovered overlap between common and de novo variants contributing to ASD and those associated with behavioral traits in the broader population.
Russian CRISPR researcher moves along with plans to ultimately alter the genes of embryos of deaf couples, though awaits regulatory approval, Nature News reports.
University of California, San Francisco, researchers have uncovered a gene mutations that appears to make a father-son duo more efficient sleepers.
NPR reports a large health insurer has begun to cover some pharmacogenetic tests for psychiatric drugs.
In PLOS this week: genome-wide association study of non-syndromic orofacial cleft subtypes, epigenetic and transcriptomic analysis of pancreatic ductal adenocarcinoma, and more.