Author

Karen McGuire

Oxford 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.

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Genetic & Genomic Medicine· 1

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

Frequent Co-Authors

Alexandra ButtersiD· 1 shared Alicia B. ByrneiD· 1 shared Anne RonaniD· 1 shared Christopher SemsarianiD· 1 shared Colleen A. CaleshuiD· 1 shared Daniel G. MacArthuriD· 1 shared Francesca HarringtoniD· 1 shared Ian Hayes· 1 shared

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2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra ButtersORCID

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1 paper

Recent·Most cited

A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

Alexandra Butters, Kate L. Thomson, Francesca Harrington, Natasha Henden, Karen McGuire, Alicia B. Byrne, Samantha J. Bryen, Kathryn A. McGurk, Megan Leask, Michael John Ackerman, John James Atherton, Johan Martijn Bos, Colleen A. Caleshu, Sharlene M. Day, Kyla E. Dunn, , Jodie Ingles

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

medRxiv · Feb 8, 2024 · PreprintGenetic & Genomic Medicine