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View Code? Open in Web Editor NEWRNA-seq for Mendelian disease diagnostics: A hands-on tutorial through bioinformatic tools and workflows
License: MIT License
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ASE
Preprocessing
- create pipeline to run full ASE (wbuild.yaml)
- Inject events into 2 samples (ALDH18A1 & MCOLN1)
- Annotated with VEP full VCF with only the most sever event
- subset for 5 random samples including the injected events
What to do in the Workshop
- Run DESeq2 (based on Kremer et al)
- Run Aneva-Dot (based on Pejman et al)
- filter/find ALDH18A1
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