Author

Laura Yarram-Smith

North Bristol NHS TrustORCID 0000-0002-8857-4935Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 Elizabeth Johnston· 4 shared George J. BurgheliD· 4 shared Helen HansoniD· 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

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedJul 15, 2026

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

Alice Garrett, Sophie Allen, Charlie F Rowlands…·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.

1 citation

benchmark studybenchmarking

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJul 14, 2026

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

Sophie Allen, Charlie F Rowlands, Zeid Kuzbari…·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.

DOI 10.64898/2026.07.10.26357766

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJul 13, 2026

'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…·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.

DOI 10.64898/2026.07.10.26357770

statistical modelbenchmark study

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 25, 2026

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

Charlie F Rowlands, Subin Choi, Sophie Allen…·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.

1 citation

whole-exome sequencingdatabase / resource

𝕏 PostBluesky