Author

Dhong‐gun Won

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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Research Focus:variant effect prediction· 3 Organism:human· 2 Assay:whole-exome sequencing· 2 Approach:Bayesian inference· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Beom Hee LeeiD· 2 shared Changwon KeumiD· 2 shared Go Hun SeoiD· 2 shared Arum OhiD· 1 shared Baik‐Lin EuniD· 1 shared Byung‐Chul LeeiD· 1 shared Dongwook KimiD· 1 shared Hajeong LeeiD· 1 shared

Activity by Year

2020-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetics

Beom Hee LeeORCID

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3 papers

Recent·Most cited

BioinformaticsBioinformaticsPeer-reviewedJul 15, 2021

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.

39 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsClinical GeneticsPeer-reviewedSep 14, 2020

Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders

Go Hun Seo, Tae Ho Kim, Jung-young Park…·Beom Hee Lee

This study evaluates an automated variant interpretation system for whole exome sequencing, finding it improves diagnostic yield for genetic disorders by 51%.

174 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintJul 22, 2020

A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework.

You Kyung Cho, Dhong‐gun Won, Changwon Keum…·Byung‐Chul Lee

This paper introduces a Bayesian framework method called BayesianOR to improve the interpretation of genetic variants for PS4 criteria in rare diseases using in-house frequency data.

2 citations

Bayesian inferencevariant effect prediction

𝕏 PostBluesky