Variant Effect Prediction Training Course

We only have a handful of places left! Can you afford to miss out on this excellent educational event?

We invite you to participate at the HVP 4th Variant Effect Prediction Training Course that will be held in Moscow, Russia 29 - 31 May 2019. 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 hands-on experience with genome informatics tools.  

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

• For complete details including the final program the  please visit the Course Website: http://veptc.variome.org 

• 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)
• LOVD+
• Classification in multifactorial disease
• Whole Exome Sequecing Analysis
• Future Developments
• Commercial packages
• & more...