Monday 28 Sept. 2020:
- Registration Opens 7.30
- 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)
- Classification in multifactorial disease
- Whole Exome Sequecing Analysis
- Future Developments
- & 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.