Author

Denise G O'Mahony

Oslo University HospitalORCID 0000-0002-7212-0920Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Cancer Biology· 1 Genetic & Genomic Medicine· 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:benchmarking· 1 Research Focus:cancer & tumor microenvironment· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Ina Skaara BrorsoniD· 2 shared Ksenia SokolovaiD· 2 shared Vessela Nedelcheva KristenseniD· 2 shared A. Heather EliasseniD· 1 shared Alison M. DunningiD· 1 shared Alpa V. PateliD· 1 shared Amy Trentham‐DietziD· 1 shared Andliena TahiriiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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2 shared papersBioinformatics

Ina Skaara BrorsonORCID

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3 papers

Recent·Most cited

BioinformaticsPLoS Computational BiologyPeer-reviewedOct 6, 2026

HiFIseek: gene-specific enrichment of high-impact mutations in associated genomic regions

Rafael Riudavets Puig, Denise G O'Mahony, Ina Skaara Brorson…·Anthony Mathelier

HiFIseek identifies gene-specific enrichment of high-impact mutations in genomic regions associated with cancer and breast cancer risk SNPs, showing limited agreement across CRR-score combinations.

DOI 10.1371/journal.pcbi.1014842

humanwhole-genome sequencing

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Cancer BiologybioRxivPreprintSep 24, 2025

CLONAL SELECTION SUPPORTED BY SINGLE CELL DNA SEQUENCING REVEALS HORMONAL ADAPTATION AND RESISTANCE IN LOCALLY ADVANCED BREAST CANCER DURING NEOADJUVANT AROMATASE INHIBITION

Denise G O'Mahony, Tom Lesluyes, Ina Skaara Brorson…·Vessela Nedelcheva Kristensen

This study uses whole-exome sequencing and single-cell DNA sequencing to analyze subclonal evolution in breast cancer during aromatase inhibitor treatment, identifying resistance mechanisms and actionable targets.

DOI 10.1101/2025.09.24.678208

humanwhole-exome sequencing

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMay 24, 2025

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

Maria Zanti, Denise G O'Mahony, Michael T. Parsons…·Gary Zirpoli

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

11 citationstop 2%

humanwhole-exome sequencing

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