Author

Takashi Kamatani

Institute of Science Tokyo HospitalORCID 0000-0001-7164-0513Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Approach:machine learning (classical)· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Fuyuki MiyaiD· 2 shared Akira MurakamiiD· 1 shared Carlo RivoltaiD· 1 shared Haruko NakagawaiD· 1 shared Hiroko TerasakiiD· 1 shared Hiroshi KunikataiD· 1 shared Jo NishinoiD· 1 shared Katarina Vizar CisarovaiD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersBioinformatics

Fuyuki MiyaORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintJul 10, 2026

MARiO: predicting cancer variant pathogenicity by integrating in silico evaluation and patient-level mutational contexts

Haruko Nakagawa, Takashi Kamatani, Naoya Ishibashi…·Sadakatsu Ikeda

MARiO predicts cancer missense variant pathogenicity by integrating variant-level features and patient-level clinical and genomic contexts, achieving high accuracy.

DOI 10.64898/2026.07.07.736919

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintDec 1, 2019

Systematic detection of Mendelian and non-Mendelian variants associated with retinitis pigmentosa by genome-wide association study

Koji M. Nishiguchi, Fuyuki Miya, Yuka Mori…·Toru Nakazawa

This study uses GWAS to identify Mendelian and non-Mendelian variants associated with retinitis pigmentosa, uncovering new genetic causes and therapeutic targets.

3 citations

humanGWAS summary statistics

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