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.
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.
The company's adaptive low-resource testing technology requires no instrumentation and limited equipment, making it adaptable to settings without clinical lab infrastructure.
The grants were awarded as part of Australia's Genomics Health Futures Mission, which was launched in 2018 as part of a broader health research initiative.
Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.
Run by the Simons Foundation Autism Research Initiative, SPARK has already grown to more than 220,000 participants from 75,000 families living in the US.
The trial aims to combine personal information, pharmacogenomics data, and machine-learning tools to select the best anti-seizure medication for patients.
