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.
Retraction Watch reports that a paper was pulled because it refers to a gene that doesn't exist in mice.
Researchers were able to generate fertilized northern white rhinoceros eggs, according to Mashable.
Former Orig3n employees raise concerns about its testing at Bloomberg Businessweek.
In PLOS this week: microRNA expression changes in hepatocellular carcinoma, real-time PCR-based approach for diagnosing schistosomiasis, and more.