Author

Akihiro Hashiguchi

Kagoshima UniversityORCID 0000-0002-6114-998XUnclaimed 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:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Atsushi FujitaiD· 1 shared Fumiaki TanakaiD· 1 shared Gen SobueiD· 1 shared Haruki KoikeiD· 1 shared Hideyuki TakeuchiiD· 1 shared Hiroshi DoiiD· 1 shared Hiroshi SugiyamaiD· 1 shared Hiroshi TakashimaiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Atsushi FujitaORCID

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1 paper

Recent·Most cited

GeneticsNature GeneticsPeer-reviewedJul 22, 2019

Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita…·Gen Sobue

The paper identifies a GGC repeat expansion in the NOTCH2NLC gene using long-read sequencing, linking it to neuronal intranuclear inclusion disease in both familial and sporadic cases.

499 citationstop 1%

humanlong-read sequencing

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