Gene Variant Databases

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

January 17, 2024
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 established guidelines for variant annotation. However, putting these guidelines into practice is difficult and time-consuming, requiring a meticulous process of gathering data and compiling evidence for each identified genetic variant and drawing information from various sources to assess its clinical significance. Therefore, the accuracy of variant annotation significantly relies on reputable and regularly updated reference databases that contain information about well-documented genetic variants and their clinical implications.

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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