genetic disorders
Sema4's GeneDx to Provide Genome Sequencing, Interpretation for Large-Scale Newborn Screening Study
The GUARDIAN (Genomic Uniform-screening Against Rare Diseases in All Newborns) study plans to screen 100,000 newborns for up to 250 rare genetic conditions.
UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants
The study, presented at the virtual ASHG annual meeting this week, analyzed phenotypes in carriers of different recessive Mendelian diseases.
Sick Infants Profiled With WGS See Better Diagnosis, More Care Changes
The results shore up prior studies and add to the growing evidence for the benefits of rapid whole-genome sequencing in critically ill newborns.
The technology has been licensed by MGeneRx, which plans to commercialize it in the US first, then expand to low- and middle-income countries.
Takeda Pharmaceutical, Rady Children's Partner on Rare Genetic Disease Drug Development
The partners will use data derived from whole-genome sequencing to discover and develop treatments for rare child-onset genetic diseases.
Jun 15, 2020
Yourgene Health Gets CE Mark for Iona NIPT Test
May 5, 2020
Invitae Q1 Revenues Grow 58 Percent
Jan 9, 2020
Nov 8, 2019
Sep 13, 2019
Jul 10, 2019