HGMD

Hybrid Variant Interpretation: Combining AI + Expert Curation to Streamline...

Wed, 11 Mar 2026 08:24:50 GMT

As hereditary NGS testing grows more complex, clinical labs must interpret variants with greater speed and accuracy. This webinar introduces Franklin by QIAGEN, now integrated with HGMD Professional, combining AI-powered workflows and automated ACMG annotation with the leading expert-curated germline database. Together, they enable faster, evidence-backed interpretation, reduce manual review, and boost reporting confidence by minimizing missed clinically relevant findings.

In this webinar, you’ll see how Franklin + HGMD accelerates variant matching, streamlines VUS assessment, supports long-read sequencing, and delivers instant access to curated clinical and functional evidence—all through a unified interpretation workflow.

Key highlights include:

Integrated ACMG-based annotation + automatic literature curation for evidence-backed interpretation
Instant variant matching to quickly identify known, reported, or novel variant
Faster VUS resolution with direct access to relevant publications and functional data
Minimal manual literature search with direct links to HGMD Professional in-platform
Long-read sequencing support for interpreting complex alleles and structural variants

Fast-track inherited disease insights from your variant data with HGMD Pro

Mon, 29 Sep 2025 22:24:36 GMT

From clinicians to translational researchers to drug developers, everyone is feeling the pressure to match patients with the right therapy faster. The challenge intensifies with rare and inherited diseases, where information is limited and affected individuals are few and scattered across the world.

But you can cut weeks from your variant interpretation workflow – without compromising accuracy. On September 24, see how Human Gene Mutation Database (HGMD) Professional can shorten the path to germline variant insights using expert-curated data. Explore almost 30 years of curated variant knowledge, spanning over 17,600 genes and more than 38,000 phenotypes.

Learn 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  

• Answer other variant-related questions

HGMD Pro Masterclass- Search curate and classify genetic variants

Thu, 05 Jun 2025 08:42:39 GMT

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 masterclass on June 3 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.

See 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  

• Answer other variant-related questions 

Expanding rare disease horizons Developing a diagnostic algorithm for...

Thu, 03 Apr 2025 12:56:54 GMT

In the absence of genetic testing, is there a clear way forward with diagnosing and treating rare genetic diseases?

A great challenge in rare disease research is finding enough affected individuals to create large cohorts. In addition to limited logistical or financial access to NGS, clinicians are often left to rely solely on observed symptoms. Unfortunately, clear guidelines on facilitating diagnoses and care for many diseases in resource-limited settings are non-existent.

In this webinar, Claudio de Gusmao, director of the Pediatric Movement Disorders Program at the University of São Paulo, will show how his team developed a diagnostic and management algorithm using KCNA1 mutation-driven episodic ataxia type 1 (EA1) and CACNA1A mutation-driven episodic ataxia type 2 as a model. De Gusmao will explore how:

Specific clinical variables can assist in the differential diagnosis of EA1 vs. EA2, such as attack duration, triggers, interictal symptoms, and more.
Statistical analyses of published cases can potentially advance rare disease research.
Comprehensive, human expert-curated variant data such as from Human Mutation Gene Database (HGMD) Professional can help streamline the process of vetting variants and published studies in preparation for systematic literature reviews.

Decode genetic variants with HGMD Professional

Fri, 28 Feb 2025 22:35:43 GMT

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

Discover biomarkers, validate targets and identify variants with QDI software

Tue, 19 Nov 2024 08:54:21 GMT

Learn how to leverage solutions from QIAGEN Digital Insights to discover biomarkers, validate targets, and identify variants.

Attendees will learn to:

1. Locate public studies of interest using OmicSoft DiseaseLand

2. Investigate expression of genes of interest across different treatments, disease states, etc.

3. Identify variants of interest for candidate biomarkers and targets using Human Gene Mutation Database (HGMD)

4. Leverage the QIAGEN Knowledgebase in Ingenuity Pathway Analysis (IPA) to explore and extend findings from OmicSoft DiseaseLand and HGMD

5. Access data from OmicSoft, HGMD and IPA in ways that are helpful for data scientists

HGMD Pro unleashed Interpret genetic variants better, faster - Session 2

Fri, 25 Oct 2024 09:28:28 GMT

HGMD Pro unleashed: Interpret genetic variants better, faster

Mon, 21 Oct 2024 10:45:11 GMT

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

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

Fri, 21 Jun 2024 03:27:17 GMT

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

Expanding Germline and Somatic Variant Knowledge and Interpretation

Thu, 08 Sep 2022 19:37:27 GMT

In this 60-minute webinar, learn how the online resources of the Human Gene Mutation Database (HGMD) Professional and the Human Somatic Mutation Database (HSMD) can improve the quality, and decrease the time needed for variant classification and interpretation.

Users will discover how to use both these expert-curated resources for the annotation and understanding of next-generation sequencing data in routine clinical and translational research.