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Case studies: Real world examples of how labs can use HGMD Professional to mitigate errors in variant interpretation

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The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whether false positives or false negatives, can result in inappropriate medical interventions or missed opportunities for treatment. To mitigate the risks associated with variant misinterpretation, the professional genetics community has […]