Registration Begins Wed. 29th May at 07:30

Course Begins Wed. 29th May at 08:30

Course Ends Fri. 31st May at 18:00 
 

• 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
• 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