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X-WR-CALNAME:Bioinformatics Software | QIAGEN Digital Insights
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X-WR-CALDESC:Events for Bioinformatics Software | QIAGEN Digital Insights
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DTSTART;TZID=America/New_York:20240116T110000
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DTSTAMP:20260410T112127
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UID:10000711-1705402800-1705406400@staging.digitalinsights.supremeclients.com
SUMMARY:Case studies: Real world examples of how labs can use HGMD Professional to mitigate errors in variant interpretation
DESCRIPTION: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.\n\nJoin 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.\n\nIn this webinar\, attendees will:\n\nExamine 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.\nLearn how HGMD Professional is maintained by a team of expert curators and updated every three months.\nHear a real-life story of how HGMD Professional can help prevent misdiagnoses with an example of variant misclassification causing inappropriate and devastating medical intervention.
URL:https://staging.digitalinsights.supremeclients.com/webinars-and-events/case-studies-real-world-examples-of-how-labs-can-use-hgmd-professional-to-mitigate-errors-in-variant-interpretation/
LOCATION:Virtual - Americas - EST\, United States
CATEGORIES:Clinical,Webinar
ATTACH;FMTTYPE=image/jpeg:https://staging.digitalinsights.supremeclients.com/wp-content/uploads/2024/05/HGMDPageThumbnail.jpg
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DTSTART;TZID=America/New_York:20240116T130000
DTEND;TZID=America/New_York:20240116T143000
DTSTAMP:20260410T112127
CREATED:20231213T141545Z
LAST-MODIFIED:20241024T182955Z
UID:10000714-1705410000-1705415400@staging.digitalinsights.supremeclients.com
SUMMARY:Sanger sequencing\, alignment\, cloning\, primer design and more using QIAGEN CLC Main and Genomics Workbench software
DESCRIPTION:If you're a QIAGEN CLC Main and/or Genomics Workbench user\, or interested in learning about the below analytics\, you won't want to miss this training: \n• Alignment and tree construction\n• Sanger sequencing analysis\n• Cloning and primer design\n• Other molecular biology tools
URL:https://staging.digitalinsights.supremeclients.com/webinars-and-events/sanger-sequencing-alignment-cloning-primer-design-and-more-using-qiagen-clc-main-and-genomics-workbench-software/
LOCATION:Virtual - Americas - EST\, United States
CATEGORIES:Discovery,Webinar
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