Author

Kenjiro Kosaki

Keio UniversityORCID 0000-0002-6798-8151Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Organism:mouse· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Ai OkadaiD· 1 shared Akemi J. Tanaka· 1 shared Akihide YoshimiiD· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Anna HurstiD· 1 shared Anna Mikhaleva· 1 shared Asuka KawachiiD· 1 shared

Activity by Year

2019-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperBioinformatics

Ai OkadaORCID

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Author profile →

4 papers

Recent·Most cited

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada, Kenjiro Kosaki, Masatoshi Hagiwara

PDIVAS identifies pathogenic deep-intronic variants causing aberrant splicing with high sensitivity using an ensemble machine-learning model.

BMC Genomics · Oct 10, 2023Peer-reviewedGenetic & Genomic Medicine

DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Onishi, Hiromi Kamura, Kazuaki Kojima, Hiroki Kikuchi, Miho Terao, Tohru Sugawara, Ohsuke Migita, Masayo Kagami, Tsuyoshi Isojima, Yu Yamaguchi, Keiko Wakui, Hirofumi Ohashi, , Kenichiro Hata

The paper identifies DNA methylation signatures associated with NSD2 loss-of-function variants and shows their similarity to those in Wolf-Hirschhorn syndrome.

bioRxiv · Jan 6, 2023 · PreprintGenetics

Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data

Yuichi Shiraishi, Ai Okada, Kenichi Chiba, Asuka Kawachi, Ikuko Omori, Raúl Nicolás Mateos, Naoko Iida, Hirofumi Yamauchi, Kenjiro Kosaki, Akihide Yoshimi

The paper identifies intron retention associated variants using transcriptome data alone, finding 27,937 variants and 3,077 putative disease-associated ones.

Nature Communications · Sep 29, 2022Peer-reviewedBioinformatics

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie Fremstad Rustad, Natasha J. Brown, Dawn Earl, Boris Keren, Olga A. Levchenko, Sinje Geuer, David J. Amor, Alfredo Brusco, Elizabeth Martina Bebin, Gerarda Cappuccio, Joel Charrow, , Alexandre Reymond

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

bioRxiv · Jul 17, 2019 · PreprintGenetics