Author

Deborah Whitehorn

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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Bioinformatics· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:variant calling· 3 Organism:human· 2 Assay:whole-genome sequencing· 2 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adrian James ThrasheriD· 2 shared Allan LawrieiD· 2 shared Andrew J. PeacockiD· 2 shared Anton Vonk NoordegraafiD· 2 shared Arjan C. HouwelingiD· 2 shared Barbara Girerd· 2 shared Carmen Treacy· 2 shared Charaka HadinnapolaiD· 2 shared

Activity by Year

2018-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Adrian James ThrasherORCID

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3 papers

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

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark R. Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen Treacy, Katherine Yates, Louise C. Daugherty, , Nicholas W. Morrell

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.

Nature Communications · Apr 11, 2018Peer-reviewedGenetics

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Aarnoud P. Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Yousaf Manzur, Adrian James Thrasher, Alan J. Greenhalgh, Alasdair P. J. Parker, Alba Sanchis‐Juan, Alex Richter, Alice Gardham, Allan Lawrie, , Emma L. Wakeling

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.

Scientific Reports · Jan 16, 2018Peer-reviewedBioinformatics