exome sequencing
Mayo Clinic, Personalis Ink Comprehensive Genomics Research Collaboration
Investigators intend to offer Personalis' comprehensive genomics testing to consenting patients for both clinical use and to aggregate data for ongoing research.
Blueprint Genetics to Analyze Biobank Samples for Rare Diseases in New Finnish Study
Researchers plan to identify and sequence the exomes of 3,000 individuals from the biobank who are likely to have one of a number of rare diseases.
Centogene Q2 Revenues Continue to Benefit From COVID-19 Testing as Core Business Starts to Recover
The German rare disease diagnostics company had €51.9 million in Q2 revenues, significantly beating the average Wall Street estimate.
ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies
An American College of Medical Genetics and Genomics working group conducted a systematic review of the literature to develop its recommendation.
Helix Raises $50M in Series C Financing
The company plans to use the new funding to accelerate the use of its population genomics platform and to support its COVID-19 testing and viral surveillance efforts.