Variant Effect Prediction Training Course

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 a full list of topics, 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...