Author

Imogen JH Grimwade

University of ExeterORCID 0009-0005-1289-0674Unclaimed 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· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 1 shared James FashamiD· 1 shared Leigh M. JacksoniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

3 top collaborators · 3 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Caroline Fiona WrightORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 18, 2026

Investigating penetrance of severe combined immunodeficiency variants in an adult population cohort: implications for genomic newborn screening

Imogen JH Grimwade, James Fasham, Caroline Fiona Wright, Leigh M. Jackson

The paper estimates penetrance of SCID variants in a population cohort, finding low penetrance and suggesting SCID remains a strong candidate for genomic newborn screening.

DOI 10.64898/2026.02.17.26346478

humanwhole-genome sequencing

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