Author

Johan W. H. Verjans

Royal Adelaide HospitalORCID 0000-0002-8336-6774Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:machine learning (classical)· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:fine-mapping· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Brendan HoskingiD· 2 shared Denis C. BaueriD· 2 shared Letitia M.F. SngiD· 2 shared Mitchell J. O’BrieniD· 2 shared Natalie A. TwineiD· 2 shared Roc ReguantiD· 2 shared Yatish JainiD· 2 shared Angus Panagopoulos· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Brendan HoskingORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Novel Epistatic Interaction Between RBMS3 and CDKN2B-AS1 in Coronary Artery Disease Risk Identified by Machine Learning Tool VariantSpark

Letitia M.F. Sng, Mitchell J. O’Brien, Brendan Hosking, Piotr Szul, Roc Reguant, Mythreye Venkatesan, Philip J. Freda, Zhiping Paul Wang, Jason H. Moore, Anne H. Klein, Michael J. Kuiper, Angus Panagopoulos, Johan W. H. Verjans, Yatish Jain, Denis C. Bauer, Natalie A. Twine

The paper identifies an epistatic interaction between RBMS3 and CDKN2B-AS1 in CAD risk using VariantSpark and BitEpi, with validation in UK Biobank and All of Us.

medRxiv · Oct 19, 2025 · PreprintGenetic & Genomic Medicine

Optimizing UK Biobank Cloud Based Research Analysis Platform to Fine Map Coronary Artery Disease Loci in Whole Genome Sequencing Data

Letitia M.F. Sng, Anubhav Kaphle, Mitchell J. O’Brien, Brendan Hosking, Roc Reguant, Johan W. H. Verjans, Yatish Jain, Natalie A. Twine, Denis C. Bauer

The paper fine maps CAD loci in UK Biobank whole genome sequencing data using PolyFun and ML tools, showing improved sensitivity over traditional methods and demonstrating cost and speed benefits of cloud-based analysis.

Scientific Reports · Mar 25, 2025Peer-reviewedGenetic & Genomic Medicine