Comments (3)
Dear @knakamura6222053 ,
Thank you for your question and we are glad to hear that the container image solved your problem.
Yes, you can choose splicemap for liver working with a DNA sample from blood. You can choose your target tissue from the config file. The scores will show you the effect of the variants that you have in the DNA on splicing in your target tissue.
If you have additional RNA-seq from blood you could also run AbSplice-RNA on top of that. This will use the splicing measurement in blood and translate it to your target tissue (in your case liver).
from absplice.
Thank you for Developer
I would like to detect more mitochondrial disease genes using Absplice.
In addition, I would like to ask one question.
Can splicing abnormalities due to repetitive sequences be detected with this tool?
For example, the repetitive sequences seen in Huntington's disease.
Various analyses using Absplice have given me new ideas, and I would like to have a meeting with you.
Best regards
from absplice.
Dear @knakamura6222053, yes, we can have a meeting. I sent you an email to find a time slot.
from absplice.
Related Issues (16)
- Add AbSplice to environment.yaml
- Convert EBM model to ONNX to get rid of interpret dependency HOT 3
- Can't get attribute 'EBMPreprocessor' on <module 'interpret.glassbox.ebm.ebm' HOT 2
- Add SpliceMap info to AbSplice output
- Bugs in Absplice implementation HOT 18
- Absplice-RNA HOT 3
- T2T CHM13v2.0 (hs1) support HOT 1
- can't install, stop at "Solving environment: |" HOT 2
- How to add specific tissues like the retina into the source code HOT 7
- Container Environment problem HOT 2
- How to get CATs data HOT 7
- License HOT 1
- Can't find cause of the error HOT 2
- SpliceAI running time HOT 5
- Numpy Error appears in Example-Workflow-Execution HOT 2
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from absplice.