Tuesday 21 Sept. 2021:  

• Familiariasation with platform opens - 8.30

• Course Begins - 8.50

• End Day 1 - 15.00

Wednesday 22 Sept:

• Course continues 9.00 - 15.00

Thursday 23 Sept.: 

• Course continues 9.00 - 15.00

• Course Ends 15.00

Core topics will be presented during the three-day course.  Other topics will be available as on-demand content for six months.

Please use the program from the last course as a guide whilst we work on the 2021 program.

• Variants in the genome, position & possible consequences
• NGS: what method to apply (gene panel, WES or WGS) and where technology fails
• NGS limitations: sequencing technologies / calling variants (SNV+CNV+SV)
• CNV calling/ analysis: applications and challenges
• SNV calling/ analysis: applications and challenges
• HGVS Nomenclature; describing variants
• Human Phenotype Ontology (HPO)
• Annotating variants: Variant Effect Predictor
• Annotating variants: Variant Annotation Integrator

• Ensembl Genome Browser
• UCSC Genome Browser
• Integration of phenotypic and genomic data to diagnose patients with rare diseases
• 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 practice
• NGS in Diagnostics: where things can go wrong
• Leiden Open Variation Database (LOVD)
• Classification in multifactorial disease
• Whole Exome Sequencing Analysis
• Future Developments
• Illumina workshop
• Other commercial packages
• & more...