A new deep neural network approach used common variants in non-human primate genomes to distinguish between benign variants and those involved in human disease.
Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.
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.
The US Food and Drug Administration has approved Alnylam's RNAi-based therapy Onpattro, according to Stat News.
Harvard Medical School's Seth Cassel and Cigall Kadoch argue in a Baltimore Sun op-ed that the recent TAILORx trial shows the potential of genomic-based medicine.
Researchers in the UK are working on using gene drives to control malaria-carrying mosquitoes, the Telegraph reports.
In PLOS this week: genetic architecture mediating gene expression, metabolomic patterns in multiple myeloma, and more.