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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
2 articles
Newest firstBackgroundBreast cancer susceptibility gene testing (BCSG-testing) is expanding in relation to both eligibility for testing and number of genes included on testing panels. However, uncertainty remains regarding the most effective testing strategies for identifying clinically actionable germline pathogenic variants (gPVs) while balancing increased burden on breast and genetics clinical services. Patients and Method…
Open article record in new tab ↗Advances in technology have made possible Multiplex Assays of Variant Effect (MAVEs), systematically generating functional data for many thousands of genetic variants. Robust clinical validation and accessible online resources for MAVE data have previously been identified as barriers to clinical adoption of new MAVEs. We delivered a survey during the November 2024 Cancer Variant Interpretation Group (CanVIG-UK) me…
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