HGMD

HGMD Pro in action: Search, curate and classify genetic variants - Session 2

50 views
June 21, 2024
As the use of next-generation sequencing (NGS) in diagnostics increases, so does the demand for analysis methods that can speed up turnaround time while ensuring the quality of variant analysis. Since information on a variant plays a critical role in determining its influence on a patient’s diagnosis and treatment, clinicians require a high-quality, trusted knowledge base to lessen manual review and focus on patient care instead.

 In this previously aired live, interactive training session, our technical expert demonstrates how the Human Gene Mutation Database (HGMD) Professional can help you get better variant data faster. You will learn how to:
• Differentiate between clinically significant variants and variants of unknown significance (VUS)
• Use batch search vs. advanced search, including their differences
• Curate genes using HGMD Pro’s accurate, up-to-date information
• Determine the predominant type of genetic variant that occurs in a specific gene to understand the genetic mechanisms underlying associated diseases
• Tackle additional topics of interest based on registration feedback

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