Author

Emil E. Vorsteveld

Radboud University Medical CenterORCID 0000-0002-8752-088XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:long-read sequencing· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Alexander HoischeniD· 3 shared Annet SimonsiD· 2 shared Caspar I. van der MadeiD· 2 shared Mihai Gheorghe NeteaiD· 2 shared Peter A.C. ’t HoeniD· 2 shared Simone KersteniD· 2 shared Alice Janssen· 1 shared Anthony Vandersteen· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenomics

Alexander HoischenORCID

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Author profile →

3 papers

Recent·Most cited

Transcription-based identification of uncharacterized genes in the human immune response

Emil E. Vorsteveld, Simone Kersten, Charlotte Kaffa, Annet Simons, Peter A.C. ’t Hoen, Mihai Gheorghe Netea, Alexander Hoischen

The paper identifies uncharacterized genes differentially expressed in immune cells stimulated by pathogens and links them to rare immune disorders.

European Journal of Human Genetics · May 12, 2026Peer-reviewedGenomics

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens, Janneke H. M. Schuurs-Hoeijmakers, Galuh Astuti, Heleen Diepstra, Christian Gilissen, Evelien Hoenselaar, Alice Janssen, Kees E. P. van Roozendaal, Jettie Sikkema-van Engelen, Wouter Steyaert, Marjan M. Weiss, Helger G. Yntema, Tuomo Mantere, , Alexander Hoischen

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

medRxiv · Jun 14, 2024 · PreprintGenetic & Genomic Medicine

SUsPECT: A pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

Renee Salz, Nuno Saraiva-Agostinho, Emil E. Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter‐Jan Volders, Sarah E Hunt, Alexander Hoischen, Peter A.C. ’t Hoen

SUsPECT improves variant annotation by using custom long-read transcriptomes to better predict variant effects in clinical settings.

bioRxiv · Oct 23, 2022 · PreprintBioinformatics