epilepsy
The widely dispersed health system is integrating the Congenica platform into its clinical and research workflows to uncover genetic bases for rare conditions.
Rare variants turned up across epilepsy cases but appeared to be more common in mutation-intolerant gene regions in individuals with the most severe epilepsy subtype.
Invitae, Pacific Biosciences Collaborate on NGS-Based Pediatric Epilepsy Testing
The firms will conduct PacBio whole-genome sequencing on epilepsy patients to generate variant profiles that can help the development of diagnostic assays.
In a newly published paper, CHOP researchers described a method for rebuilding patient histories en masse to create gene-specific "footprints" in clinical records.
Centogene, Molecular Health Sign Collaboration to Improve Orphan Drug Development
The firms will combine real-life data sets in rare diseases with expertise in big data, artificial intelligence, and computational algorithms.