The study, which is recruiting 1,130 children with undiagnosed genetic diseases, is testing two web-based interactive tools.
Free genetic testing on a broad gene panel is available to children, from birth to five years old, if they've had an unprovoked seizure.
The five-year deal, which is being funded by UCB, will focus in particular on epilepsy patients who do not respond to currently available treatments.
Using data for nearly 45,000 epilepsy cases and controls, researchers identified loci contributing to focal epilepsy, genetic generalized epilepsy, or unclassified epilepsy.
A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.
British genomics interpretation software vendor Congenica will help researchers analyze WGS and WES in search of a genetic cause for sudden unexpected death in epilepsy.
Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.
Researchers used WGS to diagnose the patients when previous testing couldn't find an underlying genetic cause for their symptoms.
Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.
In PLOS this week: links between gut microbiome and colorectal cancer mutations, targeted sequencing uncovers genetic susceptibilities to epilepsy in Koreans, and more.
Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.