variant classification
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.
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.
Genomenon Acquires Variant Database, Team From Jackson Laboratory
The Ann Arbor, Michigan-based company acquired the Clinical Knowledgebase (CKB) along with 14 JAX employees and several contractors.