Author

Yu Fujinami‐Yokokawa

Keio UniversityORCID 0000-0001-7555-5797Unclaimed 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· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andrew R. WebsteriD· 1 shared Cian MurphyiD· 1 shared Dayyanah SumodheeiD· 1 shared Gavin ArnoiD· 1 shared Ismail MoghuliD· 1 shared Jing YuiD· 1 shared Kaoru FujinamiiD· 1 shared Nikolas PontikosiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperBioinformatics

Andrew R. WebsterORCID

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1 paper

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

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