Welcome to the 9th HUGO Variant Effect Prediction Training Course (VEPTC 2025)! We are excited to host the course in the vibrant city of Porto, from the 28th September to the 1st of October 2025. Join us for an immersive experience designed to deepen your expertise, connect with leading experts, and engage in hands-on learning sessions. Don't miss this opportunity to be part of a transformative journey in genomics!

Next-Generation Sequencing (NGS) has revolutionised the speed of generating variation data, yet data analysis and variant interpretation remain the most time-consuming and complex steps. As genomic testing becomes increasingly integral in diagnostics, it’s crucial to gather and curate evidence to determine whether an identified variant has been previously reported and its potential effects.

While various computational tools have emerged to assist with analysis and interpretation, end users often struggle with selecting the most appropriate methods and utilising these tools effectively.

This course is designed to help you:

Navigate the Best Tools: Learn to find and use the best resources for variant interpretation using a variety of genome browsers.

Master HGVS Nomenclature: Gain hands-on experience with HGVS nomenclature and discuss how to name challenging variants.

Choose the Right Methods: Understand which analysis methods to apply and identify potential pitfalls in NGS workflows.

Classify Variants with Confidence: Learn to classify variants using the ACMG classification system, including recent updates and recommendations.

Explore Phenotype Ontologies: Get introduced to Human Phenotype Ontology (HPO) and discover how HPO terms can aid in variant prioritisation.

Dive Into Advanced Topics: Explore RNA analysis, mitochondrial genomics, and much more.

Whether you're a beginner or an experienced professional interpreting DNA variants, this course will provide you with the fundamental knowledge and tools to enhance your variant analysis skills and stay up-to-date with the latest advancements in the field.

• Clinical reasons
• Technical reasons
• Exceptions - thinking out of the box
• Options beyond the exome
• Phenotype description - Human Phenotype Ontology

• Ensembl (workshop)
• Ensembl - variant annotation with VEP
• UCSC (workshop)
• UCSC recommended track sets (SNV & CNV)
• IGV - short read, long read, RNA

• DNA diagnostics = sharing data
• HGVS nomenclature (workshop)
• Gene variant databases (LSDBs)
• gnomAD

• RNA splicing (theory)
• Mechanisms of RNA disease
• Splice prediction tools
• Interpreting RNA data (practice)

• ACMG variant classification (theory)
• Online tools - MobiDetails (workshop)
• SNV variant classification basic (workshop)
• SNV variant classification advanced (workshop)
• CNV variant classification (workshop)

This course will offer a balanced combination of theory and hands-on practice, presented by expert speakers from across the field. Practical sessions will include both academic and commercial demonstrations, providing participants with valuable experience using genome informatics tools.

We invite you to submit an abstract (though this is optional) and look forward to your participation in what promises to be a dynamic and engaging event.

View our previous courses here.

The course will take place at the Vila Galé Hotel in the heart of beautiful Porto, Portugal’s vibrant second city. Known for its rich history, stunning architecture, and world-famous port wine, Porto is an ideal destination for both learning and leisure.

A limited number of Guest rooms at the Vila Galé Hotel can be conveniently booked through our website, offering comfortable accommodations at the course venue. Whether you're attending the course or exploring the city, Porto provides the perfect blend of professional and cultural experiences.

For more information on accommodation options, travel details, and local attractions, please visit our Accommodation & Travel pages on this website.

This course is specifically designed for people working in the lab plus biologists/clinicians/counsellors who interpret variants.

Each workshop has a dedicated expert in the field who will guide participants and provide practical examples and exercises.

By the end of the course you should have a better understanding of which test to use, where and how to find all the relevant sources for variant interpretation and ultimately improve the quality of your genetic diagnostic process.

Previous participants described the course as “educational, useful and informative” anticipating that it would improve their work.

Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis.

Expected knowledge - basic knowledge of molecular biology (DNA, RNA, protein), molecular biology lab technologies (esp. sequencing) and (human) genetics.

veptc 2025 will be of interest to: 

• molecular geneticists
• clinical geneticists
• genetics researchers
• molecular diagnostics labs
• data analysts
• medical specialists with interests in genomics
• anyone interpreting DNA variants on a regular basis

The language of instruction will be ENGLISH. 

You are required to bring a laptop to participate.

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