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9th Variant Effect Prediction Training Course

  
  April 10, 2025
Genetics
  
     
 


HUGO, Porto, Portugal
28 Sept. - 1 Oct. 2025

 

Why attend? 


VEPTC 2025 is an interactive course for people involved in DNA sequencing data analysis. It provides a transformative opportunity to elevate your professional capabilities and expand your network.

✅ Master HGVS nomenclature & variant classification using ACMG guidelines

✅ Learn to navigate genome browsers like Ensembl, UCSC, and IGV

✅ Explore advanced topics, including RNA analysis & mitochondrial genomics

✅ Gain hands-on experience in practical workshops
 

Who Should Attend?

This course is ideal for researchers, clinicians, and students eager to expand their knowledge of genetic variants and their impact on protein function and disease risk. With expert instructors and hands-on sessions, you’ll leave with practical skills you can immediately apply.

Event Highlights:

  • Interactive Learning: Engage in practical exercises and real-world case studies.
  • Networking Opportunities: Collaborate with fellow experts and peers.
  • Incredible Location: Learn and relax in the heart of the UNESCO World heritage city Porto, Portugal.

Spaces are limited, Register now to secure your place in this must-attend event!

We can’t wait to welcome you to Porto!

Best regards,

The VEPTC 2025 Team

Earlybird: Save by registering before 18th July 2025

Super Earlybird Special Offer: 1st 10 registrations before 15th March.

Act now, these are flying out fast! 
  
 
Organized by: Human Genome Organisation (HUGO)
Invited Speakers:

Full program here: https://www.veptc.hugo-int.org/program.html 

 

Exome diagnostics where technology fails

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

Genome Browsers

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

Databases

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

RNA and other functional/prediction tests

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

Variant classification / priorization

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

 

 

We’re excited to announce the 9th HUGO Variant Effect Prediction Training Course – registration is now open! 

Next-Generation Sequencing (NGS) has transformed genetic analysis, but interpreting variants remains complex. Our expert-led course will equip you with the skills to confidently analyse genomic data.

Join us from 28th September to the 1st of October in the breathtaking city of Porto, Portugal, and take your expertise to the next level!

 

 
 
Deadline for Abstracts: 8th August 2025
 
Registration:
 
 

Earlybird offer: Save by registering before 18th July 2025! 
E-mail: info@meeting-makers.com
 
 
   
 
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