Author

Shoshana Revel‐Vilk

University of CambridgeORCID 0000-0001-9151-0337Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alexander ToliosiD· 1 shared Andrew David MumfordiD· 1 shared Chantal Thys· 1 shared Christopher J. PenkettiD· 1 shared Daniel DuarteiD· 1 shared Daniel Greene· 1 shared Emily SymingtoniD· 1 shared Ernest TurroiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alexander ToliosORCID

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1 paper

Recent·Most cited

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