Author

Anneke Lucassen

University of OxfordORCID 0000-0003-3324-4338Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alice GarrettiD· 2 shared Bethany TorriD· 2 shared Clare TurnbulliD· 2 shared Sophie AlleniD· 2 shared A L Dunne· 1 shared A. Andreou· 1 shared A. Ansari· 1 shared A. Carter· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alice GarrettORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 5, 2025

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

Sophie Allen, Charlie F Rowlands, Samantha Butler…·Catarina Olimpio

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

3 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineBritish Journal of CancerPeer-reviewedSep 30, 2024

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

Bethany Torr, Christopher Iain Jones, Grace Kavanaugh…·Clare Turnbull

This study compares digital and in-person genetic counseling for germline testing in breast cancer patients, finding higher uptake with digital information without compromising other outcomes.

14 citations

humanexperimental assay

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