Author

Junwoo Woo

3billion, Inc. (South Korea)

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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Genetics· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:deep learning· 1 Assay:GWAS summary statistics· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Dongwook KimiD· 3 shared Kyoungyeul LeeiD· 3 shared Akash Kamandula· 1 shared Burkhard RostiD· 1 shared Castrense SavojardoiD· 1 shared Céline MarquetiD· 1 shared Chang LiiD· 1 shared Changwon KeumiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Dongwook KimORCID

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3 papers

Recent·Most cited

Critical assessment of missense variant effect predictors on disease-relevant variant data

Ruchir Rastogi, Ryan Chung, Sindy Li, Chang Li, Kyoungyeul Lee, Junwoo Woo, Dongwook Kim, Changwon Keum, Giulia Babbi, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, Kirsley Chennen, Thomas Weber, Olivier Poch, , Nilah M. Ioannidis

The paper evaluates missense variant effect predictors using CAGI6 data, finding strong performance across settings and highlighting biases in some predictors.

Human Genetics · Mar 1, 2025Peer-reviewedGenetics

Disease-causing variant recommendation system for clinical genome interpretation with adjusted scores for artefactual variants

Ho Heon Kim, Junwoo Woo, Dongwook Kim, Jungsul Lee, Go Hun Seo, Hane Lee, Kyoungyeul Lee

The paper develops a system that integrates variant quality control into prioritization to improve the accuracy of identifying disease-causing variants in rare disorders.

bioRxiv · Oct 12, 2022 · PreprintGenetics

3Cnet: Pathogenicity prediction of human variants using knowledge transfer with deep recurrent neural networks

Dhong‐gun Won, Dongwook Kim, Junwoo Woo, Kyoungyeul Lee

3Cnet predicts pathogenic variants using deep recurrent neural networks and evolutionary conservation, achieving higher recall than existing tools.

Bioinformatics · Jul 15, 2021Peer-reviewedBioinformatics