2nd Variant Effect Prediction Training Course (VEPTC)

2nd Variant Effect Prediction Training Course (VEPTC) is organized by The Human Variome Project (HVP) International and would be held during Nov 06 - 08, 2017 at NH Prague City, Prague, Praha, Czech Republic.

The target audience for this medical event is Molecular geneticists from diagnostic labs, Molecular geneticists from research labs, Clinical pathologists, Cytogeneticists, Clinicians.

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 computational analysis tools.

Program :

Day 1

• Variants in the genome, position & possible consequences
• Calling DNA Variants - SNV, CNV, SV
• HGVS Nomenclature; describing variants
• Human Phenotype Ontology (HPO)
• Gene variant databases & sharing information
• Variant Classification: ACMG recommendations
• Viewing the Data: Ensembl
• 2 sets of 3 x Concurrent practical sessions

Day 2

• Viewing the Data: UCSC
• Variant Annotation: VEP
• The RD Connect Platform
• Potential Consequences on RNA Level
• Potential Consequences on Protein Level
• CNV Detection from Exon Capture Data
• 2 sets of 3 x Concurrent practical sessions

Day 3

• Prioritise, Annotate and Filter Variants
• Complex Penetrance Analysis on a model of CFTR Locus Specific Efforts
• Using NGS in Molecular Syndromlogy Paired with 3D Facial Gestalk Analysis
• Functional Testing: lab tests, animal models
• NGS in Diagnostics: a practical example
• Future Developments • 2 sets of 3 x Concurrent practical sessions

Additional details will be posted as soon as they are available.