- 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)
- Classification in multifactorial disease
- Whole Exome Sequecing Analysis
- Future Developments
- Commercial packages
- & more...
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.
The experts are there to help you throughout the Course, please make time to meet with them.
YOU MUST BRING YOUR OWN LAPTOP TO PARTICIPATE IN THE COURSE.