Author

S. Jang

Seoul National UniversityORCID 0000-0002-6299-0228Unclaimed ORCID profile · follow to get notified of new preprints

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S. Jang16 papers

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jangsup MooniD· 1 shared Jong‐Hee ChaeiD· 1 shared Jun KimiD· 1 shared Seoyeon KimiD· 1 shared Seungbok LeeiD· 1 shared Soo Yeon KimiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Jangsup MoonORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 8, 2025

Pangenome-based identification of cryptic pathogenic variants in undiagnosed rare disease patients

S. Jang, Seoyeon Kim, Seungbok Lee…·Jong‐Hee Chae

This study uses long-read sequencing and pangenome analysis to identify pathogenic variants in undiagnosed rare disease patients, finding novel mutations and epigenomic changes.

2 citations

humanwhole-genome sequencing