1 item tagged with 'variant pathogenicity prediction'.
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.
We use Conda as software and dependency management tool. Conda installation guidelines can be found here:
Creator: Max Schubach
Submitter: Max Schubach
Created: 3rd Jan 2023 at 09:09
Views: 360, Downloads: 0