variants of unknown significance
Researchers described the process they took to adapt their methodology for improved BRCA variant classification through ClinGen in a new study this week.
Constantiam Biosciences Nabs $2.05M Phase II SBIR Grant From NHGRI
The company will use the award to further develop its analytic platforms for the functional analysis and reclassification of variants of uncertain significance.
Breast Cancer Patients With VUS Generally Not Overtreated, Real-World Data Analysis Suggests
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A study drawing on germline genetic testing and claims data showed at ASCO that patients with VUS are, for the most part, managed like they have negative results.
Labs, Doctors Still Grapple With Patient Recontact Despite Streamlined Variant Reclassification
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Although leading labs have coalesced around the value of protocols for making sure updated variant calls get to patients, strategies still vary and practical challenges remain.
The analysis engine is underpinned by so-called expert knowledge graphs that rely on known endometriosis variants, pathology reports, and patients' medical records.