Author

Kiwamu Akagi

Saitama Cancer CenterORCID 0000-0002-9637-9187Unclaimed 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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Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandra MartinsiD· 1 shared Amanda B. SpurdleiD· 1 shared Andreas LaneriD· 1 shared Bryony A. ThompsoniD· 1 shared Carli M.J. TopsiD· 1 shared Chihiro Inai· 1 shared Chikashi C. TeraoiD· 1 shared Christopher D. HeineniD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra MartinsORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 13, 2024

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin…·Andreas Laner

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

7 citations

statistical modelvariant effect prediction

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 15, 2020

Population-wide Screening for Germline Variants of Hereditary Cancer Genes in 12K Unselected Japanese Colorectal Cancers and 27K Controls

Masashi Fujita, Xiaoxi Liu, Yusuke Iwasaki…·Yukihide Momozawa

The paper screens 12,503 Japanese CRC patients and 23,705 controls for germline variants in 27 cancer genes, finding 3.3% of patients have pathogenic variants linked to CRC risk.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky