RNA Outlier Pipeline in "A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity"

Zenodo (CERN European Organization for Nuclear Research) 2026 Open access

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Authors: W.T.K. Maassen, C.C.E.T. Pape, Tim Niemeijer, Anne Margriet Heijink, M.T. Meems-Veldhuis, Boerrigter D.J., G. van der Vries, Henriëtte C. Westers, L.F. Johansson, K. Joeri van der Velde, MA Swertz, Lude Franke
+6 more Geertje Elizabeth Legger, Annechien J.A. Lambeck, Abraham Rutgers, Iris H. Jonkers, Marielle E van Gijn, Evelien Zonneveld‐Huijssoon
DOI: 10.5281/zenodo.18740580
Cited by: 0

Abstract

This repository contains the code for the RNA pipeline that is used to detect gene expression outliers, gene splicing outliers and mono-allelically expressed genes in the manuscript: "A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity".

Fields of Study & Subjects

Immunodeficiency and Autoimmune Disorders Genomics and Rare Diseases Genomics and Phylogenetic Studies

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
23 February 2026
Language
EN