Author

Simone Kersten

Radboud University Medical CenterORCID 0000-0002-0251-5564Unclaimed 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 Emil E. VorsteveldiD· 2 shared Mihai Gheorghe NeteaiD· 2 shared Peter A.C. ’t HoeniD· 2 shared Anne HebertiD· 1 shared Charlotte Kaffa· 1 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenomics

Alexander HoischenORCID

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3 papers

Recent·Most cited

GenomicsEuropean Journal of Human GeneticsPeer-reviewedMay 12, 2026

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

Emil E. Vorsteveld, Simone Kersten, Charlotte Kaffa…·Alexander Hoischen

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

2 citations

humanbulk RNA-seq

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BioinformaticsbioRxivPreprintOct 23, 2022

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…·Peter A.C. ’t Hoen

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

DOI 10.1101/2022.10.23.513417

humanlong-read sequencing

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Genetic & Genomic MedicineeLifePeer-reviewedOct 7, 2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

Anne Hebert, Annet Simons, Janneke H. M. Schuurs-Hoeijmakers…·Caspar I. van der Made

This study evaluates the diagnostic value of trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity, identifying DNVs in immune-related genes and providing functional evidence for FBXW11 mutations.

13 citations

humanwhole-exome sequencing

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