Author

Katherine Angela Benson

Royal College of Surgeons in IrelandORCID 0000-0003-3529-315XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Albert C.M. OngiD· 1 shared Albertien M. van EerdeiD· 1 shared Alice E. DavidsoniD· 1 shared Alistair T. PagnamentaiD· 1 shared Amy R. HicksiD· 1 shared Andrew David MumfordiD· 1 shared Andrew R. WebsteriD· 1 shared Arianna TucciiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Albert C.M. OngORCID

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1 paper

Recent·Most cited

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

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