Author

Jan D.H. Jongbloed

University Medical Center GroningenORCID 0000-0003-0663-404XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Morris A. SwertziD· 3 shared Birgit Sikkema‐RaddatziD· 2 shared Cleo C. van DiemeniD· 2 shared K. Joeri van der VeldeiD· 2 shared Kristin M. AbbottiD· 2 shared Lude FrankeiD· 2 shared Patrick DeeleniD· 2 shared Paul A. van der ZwaagiD· 2 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Morris A. SwertzORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineF1000ResearchPeer-reviewedAug 10, 2026

DAVE: how to use explainable AI to interpret missense variants for genome diagnostics based on functional protein modeling

Tim Niemeijer, René Mulder, Helga Westers…·K. Joeri van der Velde

DAVE uses explainable AI to interpret missense variants by integrating biophysically grounded features, improving variant classification and interpretability for genome diagnostics.

DOI 10.12688/f1000research.187527.1

humanwhole-exome sequencing

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Genetic & Genomic MedicineJournal of Cardiovascular Translational ResearchPeer-reviewedJan 9, 2023

Phenotypic and genetic factors are associated with absence of cardiomyopathy symptoms in PLN c.40_42delAGA carriers

Esteban A. Lopera-Maya, Shuang� Li, Remco de Brouwer…·Rudolf A. de Boer

The paper identifies shorter QRS duration in asymptomatic PLN c.40_42delAGA carriers and links it to genetic sensitivity in symptomatic carriers.

6 citations

humanstatistical model

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GeneticsNature CommunicationsPeer-reviewedJun 28, 2019

Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis

Patrick Deelen, Sipko van Dam, Johanna C. Herkert…·Lude Franke

This paper introduces GADO, a tool that uses gene expression data to predict gene-phenotype associations and improve diagnostic yield in exome sequencing by prioritizing variants in patients with unknown genetic diagnoses.

138 citationstop 1%

humanwhole-exome sequencing

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