Author

Helen D. Sage

National Health ServiceORCID 0000-0002-6485-9653Unclaimed 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 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexander Y. IngiD· 1 shared Angharad M. RobertsiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Birgit FunkeiD· 1 shared Daniel G. MacArthuriD· 1 shared Eric Vallabh MinikeliD· 1 shared James S. WareiD· 1 shared Kate L. ThomsoniD· 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

Alexander Y. IngORCID

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1 paper

Recent·Most cited

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

Nicola Whiffin, Angharad M. Roberts, Eric Vallabh Minikel, Zach Zappala, Roddy Walsh, Anne O’Donnell‐Luria, Konrad J. Karczewski, Steven M. Harrison, Kate L. Thomson, Helen D. Sage, Alexander Y. Ing, Paul J.R. Barton, Birgit Funke, Stuart A. Cook, Daniel G. MacArthur, James S. Ware

The paper responds to a critique of their variant filtering method, demonstrating its robustness and highlighting the benefits of using high-resolution variant frequencies for clinical genome interpretation.

The American Journal of Human Genetics · Jan 1, 2019Peer-reviewedGenomics