Program

All participants are required to bring a laptop with them to the course

Monday 14th October:

Registration Opens 8.00
Course Begins 8.30
Networking Reception 19.00

 

Tuesday 15th October:

Course continues 8.30 - 19.00


Wednesday 16th October:

Course continues 8.30 - 18.00
Course Ends 18.00 

Topics

Exome diagnostics where technology fails

  • Clinical reasons - (cases)
  • Technical reasons - what can go wrong
  • Technical reasons - what we almost missed
  • Beyond the exome solutions

Genome Browsers

  • Ensembl
  • UCSC
  • IGV

Databases

Deep-learning based applications

RNA and other functional/prediction tests

  • Potential consequences on the RNA Level (theory); mechanisms of RNA disease
  • RNA analysis: how to interpret RNA data to expand the Dx yield (practice)
  • Perspective for Dx: Proteomics, Methylation, PRS,  (Somalogic, Episign, Allelica) and how to translate to diagnostics (ACMG)
  • Other TBA

Variant classification / priorization

  • SNV variant classification workshop - basic
  • SNV variant classification workshop - advanced
  • Variant Classification - CNV Recommendations 
  • CNV variant classification workshop 
  • UCSC recommended track sets 
  • Integration of phenotypic and genomic data to diagnose patients with rare diseases (GPAP - platform)

We are working on the program, it will be added as soon as possible

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