Advances in Clinical Genomics Profiling
Genomics England, Oxford Nanopore Partner for Project to Diagnose Unsolved Rare Disease Cases
As part of the project, Eurofins Genomics is contracted to perform whole-genome nanopore sequencing on 7,500 samples from the 100,000 Genomes Project.
Children's Mercy Clinical Validation of Long-Read WGS Assay Sets Stage for Frontline Evaluation
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The so-called "five-base" assay, which includes methylation calls thanks to PacBio's Revio instrument, will be evaluated as a frontline test for critically ill newborns.
Initial results from a multinational rapid WGS newborn screening program are promising, though organizers hope to create a longitudinal study to support potential clinical uptake.
Rolled out in partnership with Fabric Genomics, the test includes clinical WGS and variant analysis and interpretation services with a turnaround time of four weeks.
Illumina, Henry Ford Health Partner on Genomic Testing for Cardiovascular Patients
The partnership could yield data to support the use of whole-genome sequencing in treating and managing cardiovascular disease, the leading cause of death in the US.