Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.
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 UK woman is suing three National Health Service Trusts for not telling her about her father's Huntington's disease diagnosis, the BBC reports.
LiveScience reports that a novel mutation in the LPL gene was uncovered in three siblings with very high triglyceride levels.
The president of Nankai University is embroiled in a data manipulation scandal, the South China Morning Post reports.
In PNAS this week: cytotoxic CD4 T cell signature in supercentenarians, evolutionary history of beetles, and more.