Gene Variant Databases

HGMD Pro in action: Search, curate and classify genetic variants - Session 1

June 06, 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

Related videos

Gene Variant Databases

Access to real-world data and 2 decades of expert curation

2,685 views October 01, 2021

Across oncology applications, from research to molecular testing and...

Gene Variant Databases

Can you trust AI for germline variant interpretation?

2,167 views October 21, 2021

Artificial intelligence (AI) is currently a buzzword across almost all...

Gene Variant Databases

Identify meaningful mutations in somatic tumor testing

1,172 views February 14, 2022

From Information Overload to Actionable Insights Precision medicine is...

Gene Variant Databases

Precisely target the causes of malignancy on a molecular level

442 views March 28, 2022

Key to precision oncology is the development of expert databases that...