Author

Yoonsuh Lee

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Approach:experimental assay· 2 Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Sangmoon LeeiD· 3 shared Brian Baek-Lok Oh· 2 shared Erin Connolly-Strong· 2 shared Jeonghoon Lee· 2 shared Jonathan Kyle Wallace· 2 shared June‐Young KohiD· 2 shared Jung‐Ah KimiD· 2 shared Shruthi Sriram· 2 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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3 shared papersGenetic & Genomic Medicine

Sangmoon LeeORCID

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3 papers

Recent·Most cited

Whole Genome Sequencing in Adolescent Idiopathic Scoliosis Cohort Indicates Polygenic Disease Involving Multiple Biological Pathways

İslam Oğuz Tuncay, Eun Kyoung Lee, Anxhela Gjyshi Gustafson, Yoonsuh Lee, Dawoon Jung, June‐Young Koh, Won‐Chul Lee, Sangmoon Lee, Kamran Shazand

This study uses whole-genome sequencing to identify genetic variations and biological pathways associated with adolescent idiopathic scoliosis.

medRxiv · Jan 23, 2025 · PreprintGenetic & Genomic Medicine

Analytical and clinical validation of a genome sequencing-based comprehensive rare disease genomic profiling test.

Shruthi Sriram, Sang‐Yeon Lee, Stephanie Ferguson, June‐Young Koh, Jonathan Kyle Wallace, Jeonghoon Lee, Jung‐Ah Kim, Yoonsuh Lee, Brian Baek-Lok Oh, Won Chul Lee, Sangmoon Lee, Erin Connolly-Strong

This study validates a whole-genome sequencing assay for rare disease genomic profiling, showing high sensitivity and positive predictive values for variant detection.

medRxiv · Oct 19, 2024 · PreprintGenetic & Genomic Medicine

Analytical and clinical validation of a targeted-enhanced whole genome sequencing-based comprehensive genomic profiling test.

Stephanie Ferguson, Shruthi Sriram, Jonathan Kyle Wallace, Jeonghoon Lee, Jung‐Ah Kim, Yoonsuh Lee, Brian Baek-Lok Oh, Won Chul Lee, Sangmoon Lee, Erin Connolly-Strong

The paper validates a targeted-enhanced whole-genome sequencing assay for oncology genomic profiling, showing high sensitivity and specificity for SNVs and indels, and high concordance with reference methods.

medRxiv · Dec 18, 2023 · PreprintGenetic & Genomic Medicine