Author

Paula J. Rayner-Matthews

University of CambridgeORCID 0000-0002-3185-3538Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Adrian James ThrasheriD· 1 shared Christopher J. PenkettiD· 1 shared Daniel DuarteiD· 1 shared Deborah Whitehorn· 1 shared Emily Staples· 1 shared Ernest TurroiD· 1 shared Hana Lango AlleniD· 1 shared Hannah StarkiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adrian James ThrasherORCID

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1 paper

Recent·Most cited

GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

Ilenia Simeoni, Olga Shamardina, Sri V. V. Deevi, Moira J. Thomas, Karyn Mégy, Emily Staples, Deborah Whitehorn, Daniel Duarte, Rutendo P. Mapeta, Willem Hendrik Ouwehand, Christopher J. Penkett, Paula J. Rayner-Matthews, Hannah Stark, Jonathan C. Stephens, Kathleen E. Stirrups, , Hana Lango Allen

The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.

bioRxiv · Jan 15, 2019 · PreprintGenomics