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.
In PLOS this week: Huntington's disease modifiers, possible new Chikungunya virus subgroup, and more.
Irish rare disease research center FutureNeuro is partnering with software vendor Congenica to bring sequencing to the point of care for genetic epilepsies.
Q-State Biosciences, which focuses on neurologic disorders, will work closely with WuXi NextCode to relaunch Claritas' exome assays.
The company has yet to release formal studies, but discussed two cases that illustrate the potential benefit of the methodology in improving patient treatment.
The company is developing an epilepsy test based on inflammatory proteins in patient blood that is intended for ruling out patients with seizure-like symptoms.
In PLOS this week: de novo mutations in epileptic encephalopathy, sequencing analysis of aromatic rice, and more.
A pair of new studies evaluated whole-exome sequencing and other genetic tests in children with epilepsy and in other undiagnosed monogenic disease cases.
Researchers find that historical factors influence which genes are the most highly studied, the Atlantic reports.
The US National Science Foundation's new sexual harassment policy is to go into effect next month, according to Nature News.
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: genomic ancestry analysis of Sardinians, current noncoding mutations in colorectal cancer, and more.