rare disease
The purchase of GeneDx from Opko Health will help Sema4 accelerate its push into whole-exome sequencing and grow in rare disease diagnostics.
Pacific Biosciences, Care4Rare Canada Consortium Collaborate on Rare Disease Research
The partners will use PacBio's HiFi long-read sequencing technology to study rare disease samples that have already been sequenced with short-read technology.
Centogene Reports 17 Percent Drop in Q3 Revenues, Closing Down COVID Testing Business
Given its dwindling cash position, the firm will phase out its COVID-19 testing business and streamline its footprint, resulting in up to €15 million in cost savings per year.
Emmes, MedGenome Partner on Rare Disease Patient Data Registry Project
The companies said the custom registries of rare disease patients' epidemiologic, phenotypic, and genomic data will support clinical trials.
Whole-Genome Sequencing Shines for Rare Disease Diagnosis in 100K Genomes Pilot Study
Researchers diagnosed 25 percent of rare disease cases in a whole-genome sequencing pilot study of almost 2,200 patients and thousands more family members.