Author

Haruhiko Sago

National Center For Child Health and DevelopmentORCID 0000-0001-9387-1849Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Assay:scRNA-seq· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Hiroko Ogata‐KawataiD· 2 shared Kazuhiko NakabayashiiD· 2 shared Kenichiro HataiD· 2 shared Kosuke TaniguchiiD· 2 shared Yuka Okazaki· 2 shared Asuka HoriiD· 1 shared Fuyuki Hasegawa· 1 shared K. OkamuraiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hiroko Ogata‐KawataORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineReproductive Medicine and BiologyPeer-reviewedJan 1, 2025

Isolation of nucleated red blood cells with intact genomic DNA from cord blood by applying G&T-seq

Noriko Ito, Tatsuya Fujii, Kosuke Taniguchi…·Kazuhiko Nakabayashi

The paper uses G&T-seq to isolate fetal nucleated red blood cells (fNRBCs) from cord blood and assesses their genomic integrity for noninvasive prenatal testing.

DOI 10.1002/rmb2.12671

humanscRNA-seq

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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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