Researchers from A*Star and elsewhere have implicated a recessive mutation in CAMK2A in a neurodevelopmental disorder affecting a pair of siblings.
HudsonAlpha's Greg Barsh described results from a Clinical Sequencing Exploratory Research project during the institute's ongoing Genomic Medicine Conference.
As part of Invitae's network, patients can build datasets tracking their experiences with rare conditions and make the deidentified data available for research.
In cases lacking explanatory protein-coding changes, researchers saw an uptick in de novo mutations in conserved, non-coding regulatory elements.
In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.
Mutations in the WDR26 gene appear to contribute to a condition marked by intellectual disability, facial dysmorphism, and movement problems.
The Mayo Medical Laboratories laboratory is offering mate-pair sequencing for cancer and inherited disease indications, with plans to expand the service.
Two studies described de novo gene mutations involved in autism spectrum disorder and other neurodevelopmental conditions, while weeding out unrelated changes.
GeneDx said it will contribute patient data and analytical tools to the UK's Deciphering Developmental Disorders study.
A British team discovered 14 novel genes associated with developmental disorders in addition to several new disorders linked to known genes.
Mainichi reports that 43 percent of Japanese individuals said they did not want to eat agricultural products that had been modified using gene-editing tools.
Two US Department of Agriculture research departments are moving to the Kansas City area, according to the Washington Post.
Slate's Jane Hu compares some at-home genetic tests to astrology.
In PLOS this week: analysis of polygenic risk scores for skin cancer, chronic pain GWAS, and more.