Workshop: Enhancing Variant Analysis and Interpretation

Thursday June 4th 2026 | 2.10pm - 3.40pm | Room 51

Transform raw variants into meaningful biological and clinical insights.

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 interpretation.

This workshop will help develop and improve attendees’ skills and knowledge for interpreting genetic variants, including gene curation, variant curation and looking at cutting-edge databases.

Moderators

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What to expect

Recognize current core tools for genomic variant interpretation.

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

Report and classify variants based on provided evidence.

Who should attend

This workshop is primarily designed for 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 applications and challenges.

Requirements

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)

What the workshop will focus on

Overview of curation resources for clinicians to facilitate genetic analysis for rare disease

Gene-disease validity curation in the variant curation process
Variant classification using ACMG/AMP guidelines and future guidelines (refinements)
Overview and use of genetics databases (e.g. gnomAD)

Register your interest

Please be aware that there are only a limited amount of places available. Attendance is limited to approved Festival attendees only. Please select this workshop when registering for your place.

All registrations will be reviewed by the organising committee and approved participants will receive confirmation and event details.

Please contact info@frontlinegenomics.com if you have any questions.

Register here