
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)