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At an AMP virtual meeting workshop, a Mayo Clinic lab director offered advice on what diseases to include, how to handle VUSs, and other considerations for ECS.
During a session at the ASHG 2020 virtual meeting, representatives from both organizations laid out the reasons for their contrasting guidelines.
Based on the results of Project Baby Bear, Rady Children's Hospital-San Diego hopes the State of California will cover rapid whole-genome sequencing going forward.
The suit comes shortly after Progenity filed for an initial public offering in which it is seeking to raise up to $122.6 million.
The Rostock, Germany-based company reported €12.1 million ($13.6 million) in revenues, missing the average analyst estimate of $14.7 million.
Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.
Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.
The German company reported its quarterly earnings for the first time as a public company, following the completion of its IPO on Nov. 7.
The company said three clinical centers have validated the test in a prospective clinical trial involving more than 10,000 participants.
The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.