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Workshop: Enhancing Variant Analysis and Interpretation

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Workshop: Enhancing Variant Analysis and Interpretation

Wednesday June 25th 2025
11.30 – 13:00

Room 050

Decoding Variants: Practical Skills for Real-World Impact
 

Clinical interpretation of DNA sequence variants is a crucial part of reporting results from genetic testing. The use of NGS has greatly advanced the diagnosis of genetic disorders in clinical settings. However, the vast number of DNA sequence variants identified in samples, including many that are novel, presents significant challenges for clinical interpretation.

This workshop will help develop and improve attendees’ skills and knowledge for interpreting genetic variants, including identification, classification, clinical relevance and utilizing relevant tools and resources.

Dome roundtable talks

This workshop is primarily designed for clinical geneticists, genetic counselors, laboratory professionals and other healthcare providers involved in genetic testing and diagnostics. It would also be beneficial for bioinformaticians and researchers working in the field of genomics and precision medicine, especially those focused on interpreting genetic variants.

This workshop is designed to be interactive and engaging, allowing participants to gain hands-on experience with variant interpretation while discussing real-world applications and challenges.

Pre-Requisites:

This workshop targets users with a background in the fundamentals of variant analysis. If you don’t have this background or are unsure if you are ready for this workshop, you can do some background reading here:

 

Clinical Interpretation of Sequence Variants - PMC (nih.gov) 
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology - PubMed (nih.gov) 


Key Learnings: 

  • Understand available guidance for classifying variants based on provided evidence

  • Enhance interpretation using a software that offers comprehensive annotations and visualization of breakpoints and coverage across different file types in a full genome browser 

  • Recognize current core tools and approaches to support genomic variant interpretation

Please note: To be considered for a workshop place you MUST already have an approved place at The Festival of Genomics and Biodata.

Workshop Leaders

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  • Heidi Rehm

    Heidi Rehm

    Co-Director, Medical and Population Genetics & Chief Genomics Officer, Broad Institute
  • Liz Worthey

    Liz Worthey

    Section Head, Director, and Associate Professor, UAB SOM dept of Genetics, UAB School of Medicine
  • Suganthi Balasubramanian

    Suganthi Balasubramanian

    Director, Computational Biology, Regeneron

Workshop Format: 
 


Variant Classification 

● Introduction to classification systems, focusing on the ACMG guidelines for variant interpretation

● Explanation of categories: benign, likely benign, uncertain significance, likely pathogenic, and pathogenic

Liz Worthey, Section Head, Director, and Associate Professor, UAB School of Medicine
 


Unlocking the Potential of Genetic Variants in Understanding Gene Function

Discuss how to leverage population-scale sequencing data of about a million individuals across diverse ancestries to understand rare variants and identify functionally important genes and regions

● Apply these insights and reference catalog of allele frequencies to refine the clinical assessment of pathogenic variants and variants of uncertain significance (VUS).

● Explore tools and resources derived from this data to make genetic variant analysis more accessible, aiding in accurate gene function prediction and variant impact assessment.

Suganthi Balasubramanian, Director, Computational Biology, Regeneron 
 


Tools and Resources to Support Gene and Variant Interpretation 

● Overview of important resources such as ClinGen, ClinVar, gnomAD, GenCC, Federated Variant-Level Matching and others

● Demonstration of how to use these tools can assist in gene and variant interpretation

● Understand future developments in professional standards for variant classification to reduce the VUS burden

 Heidi Rehm, Professor of Pathology, Massachusetts General Hospital and Broad Institute of MIT and Harvard

How to sign up

Registration is now closed for the workshop.


The session is currently full, but if you would still like to attend, please arrive 10 minutes early and wait to see if any last-minute spots become available.