Author

Asuka Hori

National Research Institute for Child Health and DevelopmentORCID 0009-0002-2468-311XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Fuyuki Hasegawa· 1 shared Haruhiko SagoiD· 1 shared Hiroko Ogata‐KawataiD· 1 shared K. OkamuraiD· 1 shared Kana Fukui· 1 shared Katsusuke OZAWAiD· 1 shared Kazuhiko NakabayashiiD· 1 shared Kenichiro HataiD· 1 shared

Activity by Year

2023-2023 · peak 1/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

1 shared paperGenetic & Genomic Medicine

Fuyuki Hasegawa

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

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

𝕏 PostBluesky