Author

Changwon Keum

3billion, Inc. (South Korea)ORCID 0000-0001-8318-8050Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:GWAS summary statistics· 1 Organism:human· 1

Frequent Co-Authors

Beom Hee LeeiD· 2 shared Dhong‐gun Won· 2 shared Go Hun SeoiD· 2 shared Akash Kamandula· 1 shared Arum OhiD· 1 shared Baik‐Lin EuniD· 1 shared Burkhard RostiD· 1 shared Byung‐Chul LeeiD· 1 shared

Activity by Year

2020-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Beom Hee LeeORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

GeneticsHuman GeneticsPeer-reviewedMar 1, 2025

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

Ruchir Rastogi, Ryan Chung, Sindy Li…·Nilah M. Ioannidis

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

35 citationstop 1%

GWAS summary statisticsbenchmark study

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