Author

Jung‐Ah Kim

Ajou UniversityORCID 0000-0001-6934-1987Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Brian Baek-Lok Oh· 3 shared Erin Connolly-Strong· 3 shared Sangmoon LeeiD· 3 shared Jeonghoon Lee· 2 shared Jonathan Kyle Wallace· 2 shared Shruthi Sriram· 2 shared Stephanie Ferguson· 2 shared Won Chul LeeiD· 2 shared

Activity by Year

2023-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Brian Baek-Lok Oh

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 19, 2024

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

Shruthi Sriram, Sang‐Yeon Lee, Stephanie Ferguson…·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.

DOI 10.1101/2024.10.19.24315813

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineCancer Research and TreatmentPeer-reviewedSep 19, 2024

Target-enhanced whole-genome sequencing (TE-WGS) shows clinical validity equivalent to commercially available targeted oncology panel

Sangmoon Lee, Jin Roh, Jun Sung Park…·Minsuk Kwon

This study compares target-enhanced whole-genome sequencing (TE-WGS) with a commercial targeted panel, showing TE-WGS detects all variants and provides additional clinical insights.

4 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintDec 18, 2023

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

Stephanie Ferguson, Shruthi Sriram, Jonathan Kyle Wallace…·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.

DOI 10.1101/2023.12.18.23300049

whole-genome sequencingstatistical model

𝕏 PostBluesky