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 - 30 Sept. 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 2020 be?
VEPTC 2020 will be held at Hotel Catalonia Diagonal Centro, 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)
- Variants in the genome, position & possible consequences
- Next Generation Sequencing limitations: sequencing technologies / calling variants
- HGVS Nomenclature; describing variants
- Human Phenotype Ontology (HPO)
- Ensembl Genome Browser
- UCSC Genome Browser
- Variant Effect Predictor
- Variant Annotation Integrator
- 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)
- Classification in multifactorial disease
- Whole Exome Sequencing Analysis
- Future Developments
- Illumina workshop
- Other commercial packages
- & more...
Meet some of our Speakers
den Dunnen, Johan T.
To Be Announced
Sponsors, Exhibitors & Partners
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 diagnostics labs
Medical specialists with interests in genomics
anyone interpreting DNA variants on a regular basis
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