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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 Atlantic reports another SARS-CoV-2 testing problem may be lurking: backlogs.
Researchers have sequenced the genome of "the Methuselah of freshwater fish."
The US Biomedical Advanced Research and Development Authority is supporting efforts to develop vaccines against SARS-CoV-2.
In Genome Biology this week: difference in methylation in neurons from Parkinson's disease patients, differential expression analysis by barcoded sequencing approach, and more.