News on NGS technologies, RNA-seq, clinical sequencing, & sample prep in genetics, genomics, and molecular diagnostics.
The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease.
An international team of researchers analyzed whole-genome sequencing data from about 400 individuals from more than two dozen ethnolinguistic groups.
At ASHG, a FinnGen researcher reported new recessive disease associations for cataracts, hearing loss, and other conditions, identified through the population study.
Shares of the Boulder, Colorado-based firm will begin trading on the Nasdaq today under ticker symbol "BDSX" at $18 per share.
Since the mutations are only found in a subset of patients' blood cells, the disorder, called VEXAS, might be treatable with a bone marrow transplant.
