Author

Cian Murphy

University of WarwickORCID 0000-0003-1356-959XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Andrew R. WebsteriD· 2 shared Gavin ArnoiD· 2 shared Ismail MoghuliD· 2 shared Jing YuiD· 2 shared Nikolas PontikosiD· 2 shared Susan M. DownesiD· 2 shared Alessia FiorentinoiD· 1 shared Alison J. HardcastleiD· 1 shared

Activity by Year

2017-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersBioinformatics

Andrew R. WebsterORCID

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2 papers

Recent·Most cited

BioinformaticsPLoS ONEPeer-reviewedApr 9, 2020

Phenogenon: Gene to Phenotype Associations for Rare Genetic Diseases

Nikolas Pontikos, Cian Murphy, Ismail Moghul…·Jing Yu

Phenogenon identifies gene-phenotype associations in rare genetic diseases by integrating phenotype ontologies, variant frequency data, and pathogenicity scores, uncovering both known and novel relations.

10 citations

humanwhole-exome sequencing

𝕏 PostBluesky

BioinformaticsBioinformaticsPeer-reviewedMar 14, 2017

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Nikolas Pontikos, Jing Yu, Ismail Moghul…·Vincent Plagnol

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.

52 citationstop 4%

whole-genome sequencingstatistical model

𝕏 PostBluesky