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Monday 28 Sept. 2020:  

  • Course Begins 8.30
  • Networking Reception 19.30

Tuesday 29 Sept:

  • Course continues 8.30 - 19.00

Wedensday 30 Sept. 2020: 

  • Course continues 8.30 - 18.30
  • Course Ends 18.30 


The program will be similar to the last one. Please use this as a guide whilst we work on the 2020 program.


  • 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
  • & more...

Practical Workshops

Delegates will be split into groups for the practical workshops.

ACMG Workshop - We encourage you to bring your difficult to classify variants with you to work on during the workshop.

HGVS Nomenclature Workshop - We encourage you to bring any variants you are having trouble naming with you to the workshop.

HPO Workshop - If you are unclear about how to describe a phenotype using HPO, bring it with you to the workshop.