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Clinical-Genomics / genmod

Annotate models of genetic inheritance patterns in variant files (vcf files)
http://Clinical-Genomics.github.io/genmod/
MIT License
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Implement a tier based ranking for somatic mutations #95

Open hassanfa opened 4 years ago

hassanfa commented 4 years ago

[Placeholder for implementing a tier based ranking for somatic mutation]

Resources

Resources needed to be able to understand and implement a tier based ranking

Publications

What are the relevant publications that can help understanding a proper tier ranking

Other tools and softwares

Are there any other tools that implement this?

Datasets

Relevant datasets that is needed for successful tier ranking

moonso commented 4 years ago

Will you update this @hassanfa ?

hassanfa commented 4 years ago

I am playing around with some values in Balsamic first to learn how to do it. I'll update when I have more info.

dnil commented 1 month ago

Let's start with the simple Rank model one, then perhaps go directly to https://pubmed.ncbi.nlm.nih.gov/35101336/ instead? Neither is super straightforward to fully automate, but we could get the drift into a model at least.