Author

Helga Westers

University Medical Center GroningenORCID 0000-0001-8291-5949Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:ChIP-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Cleo C. van DiemeniD· 2 shared Bart CharboniD· 1 shared Birgit Sikkema‐RaddatziD· 1 shared Corien C. Verschuuren‐BemelmansiD· 1 shared Daan NoordermeeriD· 1 shared Dennis HendrikseniD· 1 shared Dineke S. VerbeekiD· 1 shared Eddy N. de BoeriD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Cleo C. van DiemenORCID

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2 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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GeneticsInternational Journal of Molecular SciencesPeer-reviewedOct 18, 2024

Identification and copy number variant analysis of enhancer regions of genes causing spinocerebellar ataxia

Fatemeh Ghorbani, Eddy N. de Boer, Michiel R. Fokkens…·Cleo C. van Diemen

The paper identifies enhancer regions of SCA genes in human cerebellum and screens for copy number variants in undiagnosed patients, finding one potential CNV of unknown significance.

2 citations

humanChIP-seq

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