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Interpreting genetic variants, particularly variants of uncertain significance (VUS), remains a major challenge in clinical genomics. While public databases and established guidelines provide important foundations, many variants still lack sufficient evidence for confident classification, slowing down workflows and complicating reporting.
This white paper highlights how the SOPHiA DDM™ variant flagging feature addresses this gap by enabling users to contribute their own variant classifications and access insights from a rapidly growing global community of experts. By integrating community-driven knowledge directly into the interpretation workflow, SOPHiA DDM™ provides additional evidence beyond traditional sources, helping to resolve VUS and refine classifications with greater confidence.
With hundreds of thousands of variant classifications contributed across institutions worldwide, the platform delivers strong concordance and meaningful new insights, including reclassification of variants not previously reported in public databases. This collective intelligence not only supports more informed decision-making but also strengthens the performance of the AROMA pathogenicity prediction algorithm developed by SOPHiA GENETICS, further enhancing accuracy.
Read on to discover how variant flagging in SOPHiA DDM™ empowers collaboration, streamlines interpretation, and drives more confident clinical insights.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us to obtain the appropriate product information for your country of residence.
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