- 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
- SOPHiA GENETICS workshop
- QIAGEN workshop
- & 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.
SOPHiA GENETICS Workshop: Hit the target! How to reach clinical-grade performance in NGS data analysis & Find the needle in the haystack! Tackling the challenges of exomes data interpretation with an AI-driven platform.
QIAGEN Workshop - Clinical Genomics - Interpretation and Reporting with QIAGEN Bioinformatics