By focusing on sequences that have diverged rapidly in humans, researchers identified regulatory sequences suspected of affecting neural processes.
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.
The Washington Post reports that a US Senate committee voted this week to approve the nomination of Stephen Hahn to lead the Food and Drug Administration.
Nature News reports that gene therapy approaches are tackling sickle cell disease, but that the cost of treatment is a concern.
One gene regulates hundreds of others to influence facial development, according to New Scientist.
In Nature this week: resources for single-cell analysis, little overlap in the microRNAs used by Salmonella and Shigella to infect host cells, and more.