HGMD

HGMD Pro unleashed: Interpret genetic variants better, faster

93 views
October 21, 2024

With the increasing accessibility and affordability of next-generation sequencing (NGS), the copious amounts of data from NGS tests and experiments seem endless. The bottleneck has since shifted to interpreting these results: accurate results lessen manual review, while short turnaround times equate to timely diagnoses and patient care.

 

Back by popular demand, we’ve designed this training to help you master the skills needed to get the most out of Human Gene Mutation Database (HGMD) Professional and its high-quality genetic variant data. Become more proficient at:

  • Distinguishing clinically significant variants from VUS

  • Using batch search vs. advanced search

  • Curating genes using HGMD Pro’s accurate, up-to-date information

  • Identifying the predominant genetic variant in a specific gene to understand the genetic mechanisms underlying associated diseases

  • Answering other variant-related questions

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