Author

Elizabeth R. Starks

Invitae (United States)ORCID 0000-0003-0323-1392Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

John J. Vincent· 1 shared Keith NykampiD· 1 shared Laure FrésardiD· 1 shared Nick Kamps‐Hughes· 1 shared Robert Luke NussbaumiD· 1 shared Sarah Albritton· 1 shared Steve Osazuwa· 1 shared Victoria E. H. Carlton· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetics

John J. Vincent

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1 paper

Recent·Most cited

GeneticsJournal of Molecular DiagnosticsPeer-reviewedDec 20, 2022

A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes

Nick Kamps‐Hughes, Victoria E. H. Carlton, Laure Frésard…·Keith Nykamp

SPEER identifies abnormal mRNA splicing and assesses its clinical impact in hereditary cancer syndrome genetic testing, reclassifying variants of uncertain significance.

17 citations

humanbulk RNA-seq

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