Gene Variant Databases
Case studies: Real world examples of how labs can use HGMD Professional to mitigate errors in variant interpretation
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Join Dr. Ana Krivokuca, The Head of the Department of Genetic Counselling at the Institute of Oncology and Radiology Serbia, as she presents a case study webinar on how to use the Human Gene Mutation Database (HGMD) Professional, a comprehensive, diverse, meticulously annotated and regularly updated resource for finding disease-causing mutations, for multiple clinical genetic testing applications.
In this webinar, attendees:
Examine three neurological disorder case studies of how to use HGMD Professional to link phenotypes to causative variants, identify and interpret clinically relevant variants, discover ethnically relevant variants, and develop gene panels.
Learn how HGMD Professional is maintained by a team of expert curators and updated every three months.
Hear a real-life story of how HGMD Professional can help prevent misdiagnoses with an example of variant misclassification causing inappropriate and devastating medical intervention.
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