Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.
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.
John Mendelsohn, a former president of the University of Texas MD Anderson Cancer Center, has died, the New York Times reports.
Chinese state news agency Xinhua reports that a preliminary investigation has found He Jiankui performed his gene-editing work illegally.
Identical twins receive different estimates of ancestry from the same direct-to-consumer genetic testing firms, CBC reports.
In PNAS this week: chromosomal features of maize, adaptations in the vinous-throated parrotbill, and more.