Author

Kazuki Kumada

Tohoku UniversityORCID 0000-0002-2970-7742Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Assay:whole-genome sequencing· 3 Approach:statistical model· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Research Focus:imputation· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Kengo KinoshitaiD· 3 shared Masayuki P. YamamotoiD· 3 shared Shu TadakaiD· 3 shared Akihito OtsukiiD· 2 shared Fumiki KatsuokaiD· 2 shared Gen TamiyaiD· 2 shared Jun YasudaiD· 2 shared Nobuo FuseiD· 2 shared

Activity by Year

2021-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenomics

Kengo KinoshitaORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

GenomicsHuman Genome VariationPeer-reviewedOct 1, 2025

JG2: an updated version of the Japanese population-specific reference genome

Sirawit Sriwichaiin, Satoshi Makino, Takamitsu Funayama…·Jun Takayama

This paper updates the Japanese population-specific reference genome JG1 to JG2 using Hi-C and meta-assembly methods, improving coverage and accuracy for genetic research.

2 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsThe Journal of BiochemistryPeer-reviewedMay 12, 2021

Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs

Mika Sakurai‐Yageta, Kazuki Kumada, Chinatsu Gocho…·Kengo Kinoshita

The paper introduces Japonica Array NEO, a SNP array for the Japanese population with enhanced coverage and disease risk SNPs, showing high imputation quality and utility in genotyping cohorts.

41 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsPLoS ONEPeer-reviewedJan 11, 2021

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)

Hideki Tokunaga, Keita Iida, Atsushi Hozawa…·Jun Yasuda

The paper identifies seven new potentially pathogenic BRCA1/BRCA2 variants in a Japanese population using computational scores and cohort analysis.

11 citations

humanwhole-genome sequencing

𝕏 PostBluesky