Under the collaboration, Asuragen will develop diagnostic kits for analyzing repeat sequences using Thermo Fisher's 3500 Dx Series Genetic Analyzer CS2 instrument.
The authors framed their report as a guidebook to help regulatory agencies across the globe coordinate "consistent" rules while allowing for societal differences.
Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.
In a case study, the researchers used PacBio's Sequel instrument to identify a pathogenic deletion that had been missed by short-read sequencing technology.
Invitae will test 1,000 breast cancer patients from TME practices using its hereditary cancer test, regardless of whether they meet current eligibility criteria.
