Author

Saki Aoto

National Research Institute for Child Health and DevelopmentORCID 0000-0002-9011-9341Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:polygenic risk· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aiko Saso· 1 shared Asuka HoriiD· 1 shared Fuyuki Hasegawa· 1 shared Fuzuki Mizuno· 1 shared Haruhiko SagoiD· 1 shared Hiroko Ogata‐KawataiD· 1 shared Izumi Naka· 1 shared Jong-Hyun KimiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenomics

Aiko Saso

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintDec 16, 2025

High-Coverage Jomon Genomes Provide Insights into Population Structure and Genetic Traits of Ancient Japanese Hunter-Gatherers

Masahiko Kato, Fuzuki Mizuno, Yasuhiro Taniguchi…·Jun Ohashi

This study analyzes eight high-coverage Jomon genomes to reveal genetic continuity and phenotypic traits of ancient Japanese hunter-gatherers, showing their genetic influence on present-day Japanese populations.

DOI 10.64898/2025.12.14.694187

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintFeb 5, 2023

Re-evaluation of whole exome sequencing, including intronic region, in combination with genetic intolerance score for foetal structural anomalies, is helpful for diagnosis, especially in X-linked disorders

Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki…·Kenichiro Hata

This study improves diagnostic yield in fetal structural anomalies using whole exome sequencing by re-evaluating variants, including introns, with LOEUF scores, particularly for X-linked disorders.

2 citations

humanwhole-exome sequencing

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