Author

Beom Hee Lee

Asan Medical CenterORCID 0000-0001-9709-2631Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Changwon KeumiD· 2 shared Dhong‐gun Won· 2 shared Go Hun SeoiD· 2 shared Aaron J. GoldenbergiD· 1 shared Aditi SatijaiD· 1 shared Alberte Lundquist· 1 shared Aldona Zygmunt· 1 shared Alessandra FerliniiD· 1 shared

Activity by Year

2020-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetics

Changwon KeumORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 9, 2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah Bick, Sophia M. Adelson…·Dominique C. Pichard

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

73 citationstop 1%

humanwhole-genome sequencing

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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

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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

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