Author

Yumi Yamaguchi‐Kabata

Tohoku University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Atsushi HozawaiD· 2 shared Fumiki KatsuokaiD· 2 shared Jun YasudaiD· 2 shared Kengo KinoshitaiD· 2 shared Masayuki P. YamamotoiD· 2 shared Nobuo FuseiD· 2 shared Shu TadakaiD· 2 shared Akihito OtsukiiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Atsushi HozawaORCID

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2 papers

Recent·Most cited

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

GenomicsbioRxivPreprintJan 25, 2019

3.5KJPNv2, An allele frequency panel of 3,552 Japanese Individuals

Shu Tadaka, Fumiki Katsuoka, Masao Ueki…·Kengo Kinoshita

The paper constructs a population-level allele frequency panel of 3,552 Japanese individuals using a standardized pipeline and makes it publicly available.

3 citations

humanwhole-genome sequencing

𝕏 PostBluesky