In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.
The partners are planning to conduct meta-analyses of shared exome datasets from patients with inherited neurological disorders.
Mutations in the WDR26 gene appear to contribute to a condition marked by intellectual disability, facial dysmorphism, and movement problems.
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.
Robert Redfield is floated as the next director of the US Centers for Disease Control and Prevention, the Washington Post reports.
The New York Times writes that the National Institutes of Health's All of Us Research Program is "ambitious" and that some are concerned it might be overly so.
Representative Lamar Smith's criticism of the National Science Foundation has "changed the nature of the conversation," according to ScienceInsider.
In PLOS this week: non-coding RNA function in yeast, transcriptomic profiles of malaria parasites, and more.