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What is the VEPTC?

Since the 1st Variant Effect Prediction Training Course (VEPTC) in 2016, The Human Variome Project (HVP) has held yearly training courses in Variant Effect Prediction as part of its mission to build capacity in the practice of responsible genomics and contribute to improving global health outcomes. The HVP focusses on increasing both the quality and quantity of genomic knowledge that is collected, curated, interpreted and shared for clinical practice. 

This genomics course to be held in Barcelona 28 Sept. - 1st oct. 2020 with the assistance of Centro Nacional de Análisis Genómico (CNAG), Barcelona will be a mix of theory and practice presented by invited expert speakers.  Practical sessions will be a mix of academic and commercial demonstrations giving course participants hands-on experience with genome informatics tools.

We invite you to submit an abstract (but you do not need to) and to come to learn and participate at this event.  

Who is the Course for?

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.

Participants are Expected to bring thier own laptop.

The language of instruction will be ENGLISH. There will be no translation service.

Where will VEPTC 2019 be?

VEPTC 2020 will be held at a location to be announced soon in the city of Barcelona, Spain.

Scientific Program Committee

  • Johan T. den Dunnen (LUMC, Leiden) Chair
  • Ivo Gut (CNAG, Barcelona) Local Org.
  • Andreas Laner (MGZ, Munich)
  • Steve Laurie (CNAG, Barcelona)
  • Ales Maver (UMC, Ljublijana)

Topics

  • General variant databases: OMIM, dbSNP, ExAC etc.
  • Locus Specific Databases
  • DNA diagnostics = sharing data
  • Potential Consequences on the RNA Level
  • Potential Consequences on the Protein Level
  • RNA Prediction Tools
  • Protein Prediction Tools
  • Functional Testing: options of functional testing for candidate variants
  • Variant Classification: ACMG recommendations
  • Copy Number Variants (CNVs from WES)
  • NGS in Diagnostics: where things can go wrong
  • Leiden Open Variation Database (LOVD)
  • LOVD+
  • Classification in multifactorial disease
  • Whole Exome Sequencing Analysis
  • Future Developments
  • Commercial packages
  • & more...

Meet some of our Speakers

Benet-Pages, Anna

Head of Research and Development, Medical Genetics Centre (MGZ), Munich
Anna is head of the Development and Technology Transfer department at the Munich Medical... More

den Dunnen, Johan T.

Head, Leiden Genome Technology Center, Human & Clinical Genetics, Leiden University Medical Center
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

Gut, Ivo

Director, National Genome Analysis Centre, Barcelona, Spain
Ivo Gut took on the direction of CNAG in January 2010. He qualified in Chemistry at the... More

Kuhn, Robert

Associate Director, UCSC Genome Browser, UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

Laner, Andreas

Head of Genomics Program, Medical Genetics Centre, Munich
Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

Laurie, Steven

Senior Data Analyst, Centro Nacional de AnĂ¡lisis GenĂ³mico (CNAG-CRG), Barcelona, Spain
Bio coming soon...

Maver, Ales

Medical Doctor, Institute of Medical Genetics - Ljubljana University Medical Centre
Bio TBA  

To be Announced m

EBI
Ensembl presenter from EBI to be announced

To Be Announced

More Speakers to be Confirmed

View the VEPTC overview

Why you should attend?

Come to VEPTC 2020 in Barcelona and you will:

  • LEARN from distinguished speakers in Plenary & hands-on workshops.

  • GAIN valuable insights about the best tools for variant interpretation.

  • HEAR from THE variant nomenclature expert Johan T. den Dunnen.

  • DISCUSS difficult to classify variants using ACMG recommendations.

  • FIND OUT how to give correct phenotype using HPO.

  • GROW as an individual in your profession as you learn about the various tools available to you.

  • MEET and CONNECT with distinguished human geneticists.

  • DISCOVER the latest technologies and tools from leading technology companies. 

Who should attend?

  • 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

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Questions about this Genomics Course?