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Program

Participants are required to bring a laptop with them to the course

Sunday 28th September:

  • Registration Opens 10.00
  • Course Begins 11.00
  • Networking Reception 19.00 (time to be confirmed)

 

Monday 29th September:

  • Course continues 8.30 - 18.00

 

Tuesday 30th September:

  • Course continues 8.30 - 18.00


Wednesday 1st October:

  • Course continues 8.30 - 13.00
  • Course Ends 13.00 

 

 

Draft program will be added soon!

Topics

Exome diagnostics where technology fails

  • Clinical reasons
  • Technical reasons
  • Exceptions - thinking out of the box
  • Options beyond the exome
  • Phenotype description - Human Phenotype Ontology

Genome Browsers

  • Ensembl (workshop)
  • Ensembl - variant annotation with VEP
  • UCSC (workshop)
  • UCSC recommended track sets (SNV & CNV)
  • IGV - short read, long read, RNA

Databases

  • DNA diagnostics = sharing data
  • HGVS nomenclature (workshop)
  • Gene variant databases (LSDBs)
  • gnomAD

RNA and other functional/prediction tests

  • RNA splicing (theory)
  • Mechanisms of RNA disease
  • Splice prediction tools
  • Interpreting RNA data (practice)

Variant classification / priorization

  • ACMG variant classification (theory)
  • Online tools - MobiDetails (workshop)
  • SNV variant classification basic (workshop)
  • SNV variant classification advanced (workshop)
  • CNV variant classification (workshop)

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