Author

Yoshihiro Kino

Meiji Pharmaceutical UniversityORCID 0000-0003-0862-8065Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:long-read sequencing· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Martin C. FrithiD· 2 shared Naomichi MatsumotoiD· 2 shared Satomi MitsuhashiiD· 2 shared Takeshi MizuguchiiD· 2 shared Akihiro HashiguchiiD· 1 shared Atsushi FujitaiD· 1 shared Fumiaki TanakaiD· 1 shared Gen SobueiD· 1 shared

Activity by Year

2019-2019 · peak 2/yr

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10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Martin C. FrithORCID

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2 papers

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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GeneticsGenome biologyPeer-reviewedMar 19, 2019

Robust detection of tandem repeat expansions from long DNA reads

Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi…·Naomichi Matsumoto

This paper develops a method to detect tandem repeat expansions from long DNA reads, identifying pathological expansions by comparing to healthy controls.

154 citationstop 2%

humanlong-read sequencing

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