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.
NEW YORK (GenomeWeb) – De novo mutations linked to schizophrenia are over-represented in chromatin remodeling genes, researchers from Cold Spring Harbor Laboratory and Trinity College Dublin repo
In Science this week: genetic analysis of pollutant-tolerant fish, and more.
Researchers have found a rare carbapenem resistance gene on a US pig farm, NBC News reports.
New York officials are considering the use of a familial DNA search to get a lead on a suspect in the strangulation death of a runner.
NIH Director Francis Collins has selected a retired Army major general and cardiologist for the CEO spot at the agency's embattled Clinical Center.