Author

Jun Sone

Aichi Medical UniversityORCID 0000-0002-9057-7609Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Mari YoshidaiD· 2 shared Ai ObinataiD· 1 shared Akihiro HashiguchiiD· 1 shared Akinori MiyashitaiD· 1 shared Akio AkagiiD· 1 shared Akira ArakawaiD· 1 shared Akiyoshi KakitaiD· 1 shared Atsushi FujitaiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Mari YoshidaORCID

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2 papers

Recent·Most cited

Association of rare APOE missense variants with Alzheimer's disease in the Japanese population

Akinori Miyashita, Ai Obinata, Norikazu Hara, Risa Mitsumori, Daita Kaneda, Yoshio Hashizume, Terunori Sano, Masaki Takao, Ramil Gabdulkhaev, Mari Tada, Akiyoshi Kakita, Akira Arakawa, Maho Morishima, Shigeo Murayama, Yuko Saito, , Takeshi Ikeuchi

The paper identifies APOE rare missense variants in the Japanese population and finds two variants associated with protective effects against Alzheimer's disease.

medRxiv · Nov 5, 2024 · PreprintGenetic & Genomic Medicine

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

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama, Yutaka Kohno, Yoshihisa Takiyama, Kengo Maeda, Hiroshi Doi, Shigeru Koyano, , 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.

Nature Genetics · Jul 22, 2019Peer-reviewedGenetics