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.
The Trump Administration has proposed a plan to reorganize the federal government, the Washington Post reports.
Lawmakers have asked four direct-to-consumer genetic testing companies to explain their privacy policies and security measures, according to Stat News.
In Science this week: genetic overlap among many psychiatric disorders, and more.
The Economist writes that an increasing number of scientific journals don't do peer review.