Since the 1st Variant Effect Prediction Training Course (VEPTC) in 2016, Global Variome; 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. Global Variome focusses on increasing both the quality and quantity of genomic knowledge that is collected, curated, interpreted and shared for clinical practice. 

This course will be held virtually from the 21st to the 23rd of September 2021.  The course 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 experience with genome informatics tools.

We invite you to submit an abstract (but you do not need to) and look forward to your participation at this dynamic event.  

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.

The language of instruction will be ENGLISH. 

VEPTC 2021 will be an immersive virtual event. The time-zone used throughout the program is Central European Time (UTC + 1). We will schedule the program to allow live participation from a large number of time-zones.

Core topics will be delivered live with ample opportunity for Q & A. We wish to deliver a comprehensive program therefore due to time constraints some topics will be delivered as on-demand content that will be available for six months.

• Variants in the genome, position & possible consequences
• NGS: what method to apply (gene panel, WES or WGS) and where technology fails
• NGS limitations: sequencing technologies / calling variants (SNV+CNV+SV)
• CNV calling/ analysis: applications and challenges
• SNV calling/ analysis: applications and challenges

• HGVS Nomenclature; describing variants
• Human Phenotype Ontology (HPO)
• Annotating variants: Variant Effect Predictor
• Annotating variants: Variant Annotation Integrator

• Ensembl Genome Browser
  
• UCSC Genome Browser
• Integration of phenotypic and genomic data to diagnose patients with rare diseases
• 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
• Qiagen workshop
• Other commercial packages
• & more...

Ales Maver

Ljubljana University Medical Centre, Slovenia

Andreas Laner

Medical Genetics Centre, Munich, Germany

Anna Benet-Pages

Medical Genetics Centre, Munich, Germany

Antonio Vitobello

University of Burgundy, L’équipe Génétique des Anomalies du Développement (GAD), France

Benjamin Moore

Ensembl, EMBL - EBI, Cambridge, UK

Leslie Matalonga

Centre Nacional d'Anàlisi Genòmica (CNAG), Centre de Regulació Genòmica (CRG), Barcelona, Spain

Joanne Traeger-Synodinos

Lab. of Medical Genetics, Medical School, National and Kapodistrian Univ. of Athens, St. Sophia's Children's Hospital, Athens, Greece

Johan T. den Dunnen

Leiden University Medical Center, Netherlands

Periklis Makrythanasis

Lab. of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece

Robert Kuhn

UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA

Dr. Andreas Laner CHAIR

Head of Genomics Program Next Generation Sequencing

Medizinisch Genetisches Zentrum

Munich, Germany

Prof. Johan T. den Dunnen
Leiden Univ. Medical Centre
Leiden, The Netherlands

Dr. Leslie Matalonga
Clinical Genomics Specialist, Centre Nacional d'Anàlisi Genòmica (CNAG), Centre de Regulació Genòmica (CRG), Barcelona, Spain

Prof. Joanne Traeger-Synodinos
Professor of Genetics
Director of the Laboratory of Medical Genetics
National and Kapodistrian Univ.of Athens
Choremeio Research Laboratory
St. Sophia's Children's Hospital
Athens, Greece

• 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
  

• 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.