Author

Jae Young Choi

Yonsei UniversityORCID 0000-0001-9493-3458Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Heon Yung GeeiD· 1 shared Jinsei JungiD· 1 shared Jose Antonio Lopez-EscameziD· 1 shared Mai T. PhamiD· 1 shared Pablo Cruz‐GranadosiD· 1 shared Seung Hyun JangiD· 1 shared Sung Huhn KimiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Heon Yung GeeORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 16, 2025

Rare Missense Variants in MYO7A and OTOP2 Genes in a South Korean Meniere Disease Cohort

Mai T. Pham, Pablo Cruz‐Granados, Seung Hyun Jang…·Jose Antonio Lopez-Escamez

The paper identifies rare missense variants in OTOP2 and MYO7A genes in a South Korean Meniere disease cohort, suggesting their potential pathogenic roles.

DOI 10.1101/2025.06.16.25329383

humanwhole-exome sequencing

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