HGMD
Decode genetic variants with HGMD Professional
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Next-generation sequencing (NGS): the technology that took the biological research world by storm. Gone are the days when sequencing a whole human genome would take almost 13 years, now reduced to a day. But an abundance of data means nothing without high-quality resources – only when used together can they produce an interpretation that is accurate, timely and usable for patient care.
In our live, interactive training session on February 26, discover how you can use Human Gene Mutation Database (HGMD) Professional to streamline your lab’s variant interpretation. Explore the wealth of comprehensive, expert-curated data on inherited disease-associated germline variants and ensure that you are equipped to get the most out of NGS data.
Learn to 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
• Answer other variant-related questions
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