Author

Elizabeth Johnston

Nottingham University Hospitals NHS Trust

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 4 Approach:benchmark study· 3 Research Focus:database / resource· 2 Approach:statistical model· 2 Assay:GWAS summary statistics· 1 Organism:human· 1 Research Focus:software / tool· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alice GarrettiD· 4 shared Alison CallawayiD· 4 shared Bethan A. Frugtniet· 4 shared Charlie F RowlandsiD· 4 shared Clare TurnbulliD· 4 shared George J. BurgheliD· 4 shared Helen HansoniD· 4 shared Joanne Field· 4 shared

Activity by Year

2026-2026 · peak 4/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Alice GarrettORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network

Alice Garrett, Sophie Allen, Charlie F Rowlands, Subin Choi, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, L. Hughes, , CanVIG-UK

CanVIG-UK evaluates the impact of its activities on variant interpretation in cancer susceptibility genes through a survey, showing high utility and usage of its consensus recommendations.

Journal of Medical Genetics · Jul 15, 2026Peer-reviewedGenetic & Genomic Medicine

Clinical validation of large-scale functional assays: insights from 2,120 gene-truthset-assay evaluations

Sophie Allen, Charlie F Rowlands, Zeid Kuzbari, Alice Garrett, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Elizabeth Johnston, Trudi McDevitt, , Cancer Variant Interpretation Group UK (CanVIG-UK)

The paper evaluates how different truthset strategies affect evidence points (EPs) in clinical validation of functional assays across 2,120 gene-truthset-assay combinations.

medRxiv · Jul 14, 2026 · PreprintGenetic & Genomic Medicine

'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK)

Sophie Allen, Charlie F Rowlands, Alice Garrett, Zeid Kuzbari, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Elizabeth Johnston, Trudi McDevitt, , Cancer Variant Interpretation Group UK (CanVIG-UK)

The paper establishes consensus guidelines for constructing truthsets to validate functional assays in cancer variant interpretation, focusing on missense variants and clinical validation frameworks.

medRxiv · Jul 13, 2026 · PreprintGenetic & Genomic Medicine

CanVar-UK: an online data platform supporting collaborative diagnostic interpretation of germline variants in cancer susceptibility genes

Charlie F Rowlands, Subin Choi, Sophie Allen, Zeid Kuzbari, Cankut Çubuk, Răzvan Sultana, Bethany Torr, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, , CanVIG-UK

CanVar-UK is a web platform that supports collaborative interpretation of germline variants in cancer susceptibility genes by integrating variant data, clinical information, and expert discussions.

medRxiv · Mar 25, 2026 · PreprintGenetic & Genomic Medicine