Author

Emily Staples

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 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Adrian James ThrasheriD· 2 shared Christopher J. PenkettiD· 2 shared Deborah Whitehorn· 2 shared Aarnoud P. HuissooniD· 1 shared Abigail Furnell· 1 shared Adam J. MeadiD· 1 shared Adam P. LevineiD· 1 shared Adnan Yousaf Manzur· 1 shared

Activity by Year

2018-2019 · peak 1/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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2 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

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