Author

Stephanie Ferguson

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· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Brian Baek-Lok Oh· 2 shared Erin Connolly-Strong· 2 shared Jeonghoon Lee· 2 shared Jonathan Kyle Wallace· 2 shared Jung‐Ah KimiD· 2 shared Sangmoon LeeiD· 2 shared Shruthi Sriram· 2 shared Won Chul LeeiD· 2 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Brian Baek-Lok Oh

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2 papers

Recent·Most cited

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