CNVs
At the American College of Medical Genetics and Genomics annual meeting, members of two working groups provided an early look at new versions of the existing standards.
Ovarian Cancer Detected Early With DNA From Pap Smear in Proof-of-Principle Study
Researchers developed an early ovarian cancer test based on DNA from Pap smears from women who went on to develop high-grade serous ovarian cancer.
The company plans to transition its DetermaIO test from research to clinical use and to launch a new research product for immunotherapy monitoring by the end of this year.
ACMG, ClinGen Publish Recommendations for Interpretation, Reporting of CNVs
This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.
The researchers believe using cerebral spinal fluid will enable them to identify brain tumors with a higher sensitivity than with blood samples.