Investigators used gene panel sequence data to look at rare de novo variant frequencies in potential risk genes for neurodevelopmental disorders with epilepsy.
The acquisition will allow the firms to provide annotated biospecimens, as well as sequencing, bioinformatics, and lab services to hospitals and clinicians.
Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.
The prospective, multi-site clinical trial will evaluate the clinical utility of unbiased sequencing for identifying pathogens in suspected CNS infections.
The firm reported selling more billable tests in Q1 than any previous quarter and said that it is starting to see momentum in new initiatives, such as carrier screening.
In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.
