Two studies described de novo gene mutations involved in autism spectrum disorder and other neurodevelopmental conditions, while weeding out unrelated changes.
By focusing on sequences that have diverged rapidly in humans, researchers identified regulatory sequences suspected of affecting neural processes.
Exome sequences from thousands of parent-child trios led to 10 new genes in which de novo mutations are over-represented in individuals with intellectual disability.
In a cohort of some 300 people with intellectual disability, a genomic approach offered a likely diagnosis some 60 percent of the time.
Researchers diagnosed almost 70 percent of the neurometabolic cases they tackled, using exome sequence data for dozens of affected children and their families.
Using whole-exome sequencing early in the diagnostic process could save $3,500 on average in patients who obtain a diagnosis from it and $1,700 in patients who do not.
An international team tracked down de novo mutations in the CHAMP1 gene in five children with intellectual and motor delays, speech impairment, and other symptoms.
Researchers at the Manchester Centre for Genomic Medicine are using the platform to identify genetic alterations tied to cancer and developmental disorders and disabilities.
More than 10 percent of individuals in an unselected population carried recurrent syndrome-associated CNVs or rare autosomal CNVs with potential ties to cognitive ability.
NEW YORK (GenomeWeb) – Courtagen Life Sciences today announced a deal with Bioinn Molecular Diagnosis to provide Courtagen's clinical next-generation sequencing tests for neurological and metabolic disorders in Taiwan.
Harold Varmus, a former NIH director, says that proposed reductions to the agency's budget are worrisome.
The Genome 10K project is to sequence about 10,000 vertebrate genomes, including ones of endangered species, Digital Trends reports.
The new Coalition to Save NIH Funding aims to educate lawmakers and the public on the significance of biomedical research.
In PLOS this week: analysis of viral sequences from human blood samples, gut microbiomes of heart failure patients, and more.