Author

Mark Heverin

Trinity College DublinORCID 0000-0002-7326-4432Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Approach:statistical model· 2 Approach:contrastive learning· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Orla M. HardimaniD· 3 shared Declan O’SullivaniD· 2 shared Erwan MoreauiD· 2 shared C. O’DonoghueiD· 1 shared Colm PeeloiD· 1 shared Emmet CostelloiD· 1 shared Emrah KacariD· 1 shared Marie RyaniD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersBioinformatics

Orla M. HardimanORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Rare neurological and neurodevelopmental variants in ALS link to onset, survival and family history

C. O’Donoghue, Emrah Kacar, Tomás DS Gomes, Emmet Costello, Niall P Pender, Colm Peelo, Marie Ryan, Mark Heverin, Susan Byrne, Peter Bede, Orla M. Hardiman, Russell Lewis McLaughlin, Ross Patrick Byrne

This study identifies rare neurological and neurodevelopmental variants in ALS patients, showing associations with onset, survival, and family history patterns across two cohorts.

medRxiv · Jun 10, 2026 · PreprintGenetic & Genomic Medicine

Mining impactful discoveries from the biomedical literature

Erwan Moreau, Orla M. Hardiman, Mark Heverin, Declan O’Sullivan

This paper introduces a method to mine past discoveries from the biomedical literature by detecting surges in relation prevalence over time, providing a benchmark dataset for Literature-Based Discovery evaluation.

BMC Bioinformatics · Sep 16, 2024Peer-reviewedBioinformatics

Literature-Based Discovery beyond the ABC paradigm: a contrastive approach

Erwan Moreau, Orla M. Hardiman, Mark Heverin, Declan O’Sullivan

This paper introduces a contrastive approach to Literature-Based Discovery (LBD) to improve relation identification between concepts in biomedical literature, demonstrating its effectiveness through case studies on neurodegenerative diseases.

bioRxiv · Sep 22, 2021 · PreprintBioinformatics