Author

Do Hyeon Cha

Korea Advanced Institute of Science and TechnologyORCID 0000-0003-1005-7783Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Changuk ChungiD· 1 shared Cheryl Ann WinkleriD· 1 shared Daeui ParkiD· 1 shared Heon Yung GeeiD· 1 shared Jiaming Weng· 1 shared Jinhee Ryu· 1 shared Jinhui Chun· 1 shared Jong Mun ChoiiD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenomics

Changuk ChungORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintOct 13, 2026

Benchmarked sequencing methods reveal hidden mosaic variation in the human brain

Jiaming Weng, Do Hyeon Cha, Jinhui Chun…·Joseph G. Gleeson

The paper benchmarks sequencing methods to recover mosaic variants in human brain tissue and introduces RIVER to enhance variant detection across methods.

DOI 10.64898/2026.10.11.758380

humanwhole-genome sequencing

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GeneticsbioRxivPreprintNov 8, 2018

Genetic predisposition to hypouricemia on whole-exome sequencing analysis and its utilities in primary screening purposes

Do Hyeon Cha, Heon Yung Gee, Raúl E. Cachau…·Sung Kweon Cho

This paper uses whole-exome sequencing to identify genetic markers for hypouricemia and shows that screening two SNPs can detect 87.7% of cases.

3 citations

humanwhole-exome sequencing

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