Author

Nichola Cooper

Imperial College Healthcare NHS TrustORCID 0000-0002-9845-8292Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander ToliosiD· 1 shared Andrew David MumfordiD· 1 shared Carolyn M. Millar· 1 shared Chantal Thys· 1 shared Christopher J. PenkettiD· 1 shared Claire L. ShovliniD· 1 shared D. Mark Layton· 1 shared Daniel DuarteiD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Alexander ToliosORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 28, 2021

High definition analyses of single cohort, whole genome sequencing data provides a direct route to defining sub-phenotypes and personalising medicine

Katie E. Joyce, Ebun Onabanjo, Sheila Brownlow…·Claire L. Shovlin

The paper analyzes whole genome sequencing data from endothelial vasculopathy patients to identify rare variants in clinically relevant genes and their association with disease severity.

DOI 10.1101/2021.08.28.21262560

humanwhole-genome 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