Final-Master-Project

Analysis of outlier expression and splicing tools in optimal transcriptomics-based pipeline to improve diagnostics of monogenic disorders

This repository contains the Supplemetary documents for the Final Master Project of Lonneke van Brussel.

Omics Data Analysis, Faculty of Science and Technology, Universitat de Vic-Universitat Central de Catalunya, Catalonia, Barcelona, Spain

code:

https://github.com/UMCUGenetics/DxNextflowRNA/tree/feature/outrider

https://github.com/UMCUGenetics/rnaseq-voila/tree/feature/custom_settings_umcu