Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.
The researchers said that uncovering a genetic mechanism behind the condition could aid in the development of new treatments.
In PLOS this week: genetic loci tied to chronic back pain, genetic diversity of vampire bat-borne Bartonella bacteria, and more.
These three loci implicated skeletal and spinal cord development-linked pathways in chronic back pain.
The centers will generate genomic data from biosamples contributed by participants in the program and analyze data that will be returned to them.
Researchers report using genotyping to tie together illegal ivory shipments and trace them back to a handful of cartels, the New York Times reports.
In Nature this week: saturation genome editing gives insight into BRCA1 variant functions, system to identify CRISPR off-target effects, and more.
The researchers said their findings could help classify BRCA1 variants, particularly one whose impact on cancer risk is currently not clear.
In Cell this week: genome-wide chromatin accessibility profile of mouse tissues, urea cycle dysregulation in cancer, and more.
In PNAS this week: history and genetic diversity of the scarlet macaw, approach for predicting human flu virus evolution, and more.
Publication of He Jiankui's work on gene-edited infants would raise ethical concerns for journals, Wired and others report.
The New York Times reports that evidence linking trauma in one generation to epigenetic effects that influence subsequent generations may be overstated.
ScienceInsider reports that US National Institutes of Health researchers were told in the fall they could not obtain new human fetal tissue.
In PNAS this week: skin pigmentation evolution among KhoeSan, biomarkers for dengue virus progression, and more.