BBC5 年
Genome sequencing 'revolution' in diagnosis of sick children
That was the case for Claire Cole and Kris Daly, parents of Millie-Mae, aged two, who has a rare form of epilepsy. They were offered whole genome sequencing last year, after Millie-Mae had been ...
pharmaphorum1 年
Searching for answers in rare epilepsy
That’s the thing about epilepsy – it’s completely unpredictable ... UK 100,000 Genomes Project (GP), which is using whole genome sequencing as a way to diagnose and understand rare ...
Nature1 个月
Genome resequencing and genetic variation
The four reports in Nature Methods and Nature Genetics describe novel strategies for processing whole ... of the genome. Coupling of these 'enrichment' approaches to high-throughput sequencing ...
Business Wire1 个月
GeneDx to Expand Access to Exome Testing for Pediatric Epilepsy Patients with New Partners
The Patient Access Program aims to address these challenges by increasing access to whole exome sequencing for pediatric epilepsy patients ... than 700,000 exome and genome results that can ...
Stockhouse1 个月
GeneDx to Expand Access to Exome Testing for Pediatric Epilepsy Patients with New Partners
GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced Biogen (Nasdaq: BIIB), Praxis Precision Medicines (Nasdaq: PRAX) and Stoke Therapeutics ...