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Program

All times are Central European Time (CET)

CET = UTC + 1

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.

Topics

  • 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...