HGMD
HGMD Pro Workshop
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In this era of precision medicine, do you have what it takes to leverage next-generation sequencing (NGS) data towards better cancer research, diagnostics and patient care?
Join our interactive workshop and learn how Human Gene Mutation Database (HGMD) Professional can help you uncover germline variant insights using expert-curated data. Explore almost 50 years of curated variant knowledge, spanning over 17,600 genes and over 38,000 phenotypes.
This workshop will cover how you can use HGMD Pro to:
• Distinguish clinically significant variants from VUS
• Use batch search vs. advanced search
• Curate genes using HGMD Pro’s accurate, up-to-date information
• Identify the predominant genetic variant in a specific gene to understand the genetic mechanisms underlying associated diseases
• Elevated experience to access HGMD content in Franklin
• Answer other variant-related questions
The trainer may add or remove agenda items based on registrant request. While the workshop is scheduled for 90min, it may go longer (or end earlier) depending on audience questions.
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