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Snakemake1
Tag
non-coding1
pathogenicity score1
Regulatory Mendelian Mutation score1
ReMM1
Snakemake1
variant pathogenicity prediction1
Submitter
Max Schubach1
Team
KircherLab1
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Independent Teams1
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Workflow visible to you, out of a total of 1
The Regulatory Mendelian Mutation (ReMM) score was created for relevance prediction of non-coding variations (SNVs and small InDels) in the human genome (GRCh37) in terms of Mendelian diseases. This project updates the ReMM score for the genome build GRCh38 and combines GRCh37 and GRCh38 into one workflow.
Pre-requirements
Conda
We use Conda as software and dependency management tool. Conda installation guidelines can be found here:
https://conda.io/projects/conda/en/latest/user-guide/install/index.html ...
