Author

Rutendo P. Mapeta

University of Cambridge

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ernest TurroiD· 3 shared Jonathan C. StephensiD· 3 shared Karyn MégyiD· 3 shared Olga ShamardinaiD· 3 shared Adrian James ThrasheriD· 2 shared Andrew David MumfordiD· 2 shared Chantal Thys· 2 shared Christopher J. PenkettiD· 2 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Ernest TurroORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Whole-genome sequencing of rare disease patients in a national healthcare system

Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan C. Stephens, Rutendo P. Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, , Rachel J. Buchan

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

Nature · Jun 24, 2020Peer-reviewedGenomics

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

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

Kate Downes, Karyn Mégy, Daniel Duarte, Minka J. A. Vries, Johanna Gebhart, Stefanie Höfer, Olga Shamardina, Sri VV Deevil, Jonathan Stephens, Rutendo P. Mapeta, Salih Tuna, Namir Al Hasso, Martin W. Besser, Nichola Cooper, Louise C. Daugherty, , Kathleen Freson

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.

bioRxiv · Dec 21, 2018 · PreprintGenetics