Author

Martin W. Besser

Cambridge University Hospitals NHS Foundation TrustORCID 0000-0003-1004-6232Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

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

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2018-2018 · peak 1/yr

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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

GeneticsbioRxivPreprintDec 21, 2018

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

Kate Downes, Karyn Mégy, Daniel Duarte…·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.

DOI 10.1101/504142

humanwhole-exome sequencing

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