Author

Daniel Duarte

University of CambridgeORCID 0000-0001-6730-7582Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Christopher J. PenkettiD· 2 shared Ernest TurroiD· 2 shared Ilenia SimeoniiD· 2 shared Jonathan C. StephensiD· 2 shared Karyn MégyiD· 2 shared NIHR BioResource· 2 shared Olga ShamardinaiD· 2 shared Rutendo P. Mapeta· 2 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

Christopher J. PenkettORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintJan 15, 2019

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…·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.

8 citations

humanwhole-exome sequencing

𝕏 PostBluesky

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

𝕏 PostBluesky