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Record W4416386037 · doi:10.1101/2025.11.17.688763

10,239 whole genomes with multiomic and clinical health information as the Korean Multiomics Reference dataset

2025· preprint· W4416386037 on OpenAlexaff
Kyungwhan An, Sungwon Jeon, Yoonsung Kwon, Yookyung Christy Choi, Changhan Yoon, Yeonsu Jeon, Jihun Bhak, Dong-Hyun Shin, Hyomin Lee, Yeo Jin Kim, Eun‐Seok Shin, Hyojung Ryu, Asta Blažytė, Juok Cho, Dan Bolser, Soobok Joe, Jin Ok Yang, Jongbum Jeon, Jong-Hwan Kim, Dooyoung Jung, Siwoo Lee, Hee-Jeong Jin, Younghwa Baek, Yong Min Ahn, Hyung-Tae Jung, Yoon Young Choi, Seung‐Ki Kim, Ji Hoon Phi, Seung Ah Choi, Heon Yung Gee, Borah Kim, Woojae Myung, Chong Kun Cheon, Dong Uk Kim, Kyun Shik Chae, Chang Geun Kim, BongHee Lee, Jaesuk Lee, Semin Lee, Neung Hwa Park, Haeyoung Jeong, Jong Bhak

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2025
Typepreprint
Language
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsInstitute of Aging
FundersMinistry of SMEs and StartupsMinistry of Trade, Industry and Energy
KeywordsGenomeInferenceGenomicsGenomic informationImputation (statistics)Genetic genealogy

Abstract

fetched live from OpenAlex

Abstract We present Korea10K, the largest genomic dataset of the Korean population, comprising 10,239 high-coverage whole genomes (mean depth 30×) with matched multiomic profiles and phenotype data. Korea10K achieves complete and near-complete discovery of very rare and ultra-rare alleles, respectively, at 9,000 Korean genomes. This dataset provides the high-quality population-specific imputation panel, enabling accurate inference of low-frequency variants. Admixture analyses confirm the genetic homogeneity of the Korean population, despite its diverse Y-chromosomal, mitochondrial, and HLA repertoires. This pattern reflects a long and continuous lineage history characterized by persistent internal admixture and genomic homogenization over thousands of years on the Korean peninsula. We also identified 16.8 million genomic variants that directly modify CG sites by creating or abolishing CG dinucleotides, providing the population-scale evidence of coordinated genomic-epigenomic regulatory mechanism in Koreans.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.016
Threshold uncertainty score0.032

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.004
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0020.006
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0020.002
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0100.008

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.020
GPT teacher head0.285
Teacher spread0.265 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2025
Admission routes1
Has abstractyes

Explore more

Same venuebioRxiv (Cold Spring Harbor Laboratory)→Same topicGenetic Associations and Epidemiology→French-language works237,207→