Author

Sarah K. Westbury

University of BristolORCID 0000-0002-0950-8148Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 3 Assay:whole-genome sequencing· 3 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Andrew David MumfordiD· 3 shared Claire L. ShovliniD· 2 shared Mark J. CaulfieldiD· 2 shared Adrianna M. BielowkaiD· 1 shared Albert C.M. OngiD· 1 shared Albertien M. van EerdeiD· 1 shared Alice E. DavidsoniD· 1 shared Alistair T. PagnamentaiD· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Andrew David MumfordORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Thrombosis and HaemostasisPeer-reviewedFeb 13, 2026

Associations of tumour somatic mutations with cancer-associated venous thromboembolism

Naomi Cornish, Rebecca Ward, Matthew T. Warkentin…·Philip Haycock

This study identifies somatic mutations and mutational signatures associated with cancer-associated venous thromboembolism in a large cohort.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintDec 20, 2023

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Valentina Cipriani, Letizia Vestito, Emma Forton Magavern…·Damian P. Smedley

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

3 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMay 10, 2023

Functional filter for whole genome sequence data identifies stress impact, non-coding, alternate polyadenylation site variants >5kb from coding DNA

Sihao Xiao, Zhentian Kai, Dan Murphy…·Claire L. Shovlin

GROFFFY filters whole genome sequence data to identify non-coding and polyadenylation site variants, improving detection of disease-causing variants in unsolved cases.

2 citations

humanwhole-genome sequencing

𝕏 PostBluesky