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

Kyungwhan An, Sungwon Jeon, Yoonsung Kwon, Yookyung Choi, Changhan Yoon, Yeonsu Jeon, Jihun Bhak, Dong-Hyun Shin, Hyoung-Jin Choi, Hyomin Lee, Yeo Jin Kim, Eun-Seok Shin, Hyojung Ryu, Asta Blazyte, Sangsoo Park, Juok Cho, Dan Bolser, et al., Jong Bhak

bioRxiv • 2025

Telomere-to-Telomere Accurate and Gapless Korean Standard Reference Genome

Yoonsung Kwon, Jihun Bhak, Sungwon Jeon, Sangsoo Park, Changhan Yoon, Kyungwhan An, Yookyung Choi, Dong-Hyun Shin, Hyoungjin Choi, Hyomin Lee, Yeonsu Jeon, Jongbum Jeon, Soobok Joe, Jin Ok Yang, Jong-Hwan Kim, Yun Sung Cho, Jeongeun Kim, Kyun Shik Chae, Chang Geun Kim, Asta Blazyte, Jaesuk Lee, Bonghee Lee, Semin Lee, Haeyoung Jeong, Jong Bhak

bioRxiv • 2025

Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico

Asta Blazyte, Hojun Lee, Changhan Yoon, Sungwon Jeon, Jaesuk Lee, Delger Bayarsaikhan, Jungeun Kim, Sangsoo Park, Juok Cho, Sun Ah Baek, Gabin Byun, Bonghee Lee, Jong Bhak

International Journal of Molecular Sciences • 2026

Identification of reactive CpGs and RNA expression in early COVID-19 through cis-eQTM analysis reflecting disease severity and recovery

Hyojung Ryu, Kyungwhan An, Yoonsung Kwon, Yeonsu Jeon, Sungwon Jeon, Hansol Choi, Yeo Jin Kim, Sunhwa Kim, Ok Joo Sul, SangJoon Lee, Asaph Young Chun, Eun-Seok Shin, Seung Won Ra, Jong Bhak

Communications Biology • 2025

Dokdo sea lion Zalophus japonicus genome reveals its evolutionary trajectory before extinction

Jungeun Kim, Asta Blazyte, Jae-Pil Choi, Changjae Kim, Fedor Sharko, Sungwon Jeon, Eun-Mi Kim, Hawsun Sohn, Jong Hee Lee, Hyun Woo Kim, Mi Hyun Yoo, Kyunglee Lee, Artem Nedoluzhko, Jong Bhak

BMC Biology • 2025

Development of an MHC imputation panel highlights independent contributions of HLA amino acid residues and C4 copy number variations to SLE risk

Chae-Yeon Yu, Dong Mun Shin, Sung Min Kim, Yui Taek Lee, Sungwon Jeon, Sehwan Chun, So-Young Bang, Hye-Soon Lee, Xianyong Yin, Yong Cui, Xuejun Zhang, Jong Bhak, Soon Ji Yoo, Young Jin Kim, Bong-Jo Kim, Sang-Cheol Bae, Kwangwoo Kim

Annals of the Rheumatic Diseases • 2025

Dynamic and reversible transcriptomic age shifts induced by COVID-19 in Korean whole blood

Kyungwhan An, Yoonsung Kwon, Jihun Bhak, Hyojung Ryu, Sungwon Jeon, Dougu Nam, Jong Bhak

Aging • 2025

Epigenetic modulation of vascular smooth muscle cell phenotype switching in early-onset acute myocardial infarction

Yeonsu Jeon, Yoonsung Kwon, Yeo Jin Kim, Sungwon Jeon, Hyojung Ryu, Kyungwhan An, Byoung-Chul Kim, Weon Kim, Sang Yeub Lee, Jang-Whan Bae, Jin-Yong Hwang, Min Gyu Kang, Younghui Kang, Jong Bhak, Eun-Seok Shin

Arteriosclerosis, Thrombosis, and Vascular Biology • 2025

Healthome Polygon Framework: Comprehensive and Multi-dimensional Health Quantification Framework Using Artificial Intelligence and Multiomics Data

Youngmin Bhak, Eun-Seok Shin, Sungwon Jeon, Jong Bhak

medRxiv • 2025

Identification of 17 novel epigenetic biomarkers associated with anxiety disorders using differential methylation analysis followed by machine learning-based validation

Yoonsung Kwon, Asta Blazyte, Yeonsu Jeon, Yeo Jin Kim, Kyungwhan An, Sungwon Jeon, Hyojung Ryu, Dong-Hyun Shin, Jihye Ahn, Hyojin Um, Younghui Kang, Hyebin Bak, Byoung-Chul Kim, Semin Lee, Hyung-Tae Jung, Eun-Seok Shin, Jong Bhak

Clinical Epigenetics • 2025

Demographic history and genetic variation of the Armenian population

Anahit Hovhannisyan, Pierpaolo Maisano Delser, Anna Hakobyan, Eppie R Jones, Joshua G Schraiber, Mariya Antonosyan, Ashot Margaryan, Zhe Xue, Sungwon Jeon, Jong Bhak, Peter Hrechdakian, Hovhannes Sahakyan, Lehti Saag, Zaruhi Khachatryan, Levon Yepiskoposyan, Andrea Manica

The American Journal of Human Genetics • 2025

Quantification method of ctDNA using cell-free DNA methylation profile for noninvasive screening and monitoring of colon cancer

Hyojung Ryu, Ji-Hoon Kim, Yeo Jin Kim, Hahyeon Jeon, Byoung-Chul Kim, Yeonsu Jeon, Yeonkyung Kim, Hyebin Bak, Younghui Kang, Changjae Kim, Hyojin Um, Ji-Hye Ahn, Hwi Hyun, Byung Chul Kim, Inho Song, Sungwon Jeon, Jong Bhak, Eon Chul Han

Clinical Epigenetics • 2024

Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma

Yeonsong Choi, Seung Ah Choi, Eun Jung Koh, Ilsun Yun, Suhyun Park, Sungwon Jeon, Yeonkyung Kim, Sangbeen Park, Donggeon Woo, Ji Hoon Phi, Sung-Hye Park, Dong-Seok Kim, Se Hoon Kim, Jung Won Choi, Ji Won Lee, Tae-Young Jung, Jong Bhak, Semin Lee, Seung-Ki Kim

Acta Neuropathologica Communications • 2024

Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups

Sungwon Jeon, Hansol Choi, Yeonsu Jeon, Whan-Hyuk Choi, Hyunjoo Choi, Kyungwhan An, Hyojung Ryu, Jihun Bhak, Hyeonjae Lee, Yoonsung Kwon, et al.

GigaScience • 2024

Conservation implications of elucidating the Korean wolf taxonomic ambiguity through whole-genome sequencing

Germán Hernández-Alonso, Jazmín Ramos-Madrigal, Xin Sun, Camilla Hjorth Scharff-Olsen, Mikkel-Holger S Sinding, Nuno F Martins, et al., Sungwon Jeon, Changjae Kim, et al.

Ecology and Evolution • 2023

Germline DNA-repair genes and HOXB13 mutations in Korean men with metastatic prostate cancer: data from a large Korean cohort

Sang Hun Song, Hak-Min Kim, Yu Jin Jung, Ha Rim Kook, Sungwon Jeon, Jong Bhak, Jin Hyuck Kim, Hakmin Lee, Jong Jin Oh, Sangchul Lee, Sung Kyu Hong, Seok-Soo Byun

The World Journal of Men's Health • 2023

Genome-wide analyses of early-onset acute myocardial infarction identify 29 novel loci by whole genome sequencing

Yeonsu Jeon, Sungwon Jeon, Whan-Hyuk Choi, Kyungwhan An, HanSol Choi, Byoung-Chul Kim, Weon Kim, Sang Yeob Lee, Jang-Whan Bae, Jin-Yong Hwang, Min Gyu Kang, et al.

Human Genetics • 2023

Identification and Validation of Six Acute Myocardial Infarction-associated Variants, including a Novel Prognostic Marker for Cardiac Mortality

Yeonsu Jeon, Sungwon Jeon, Kyungwhan An, Yeo Jin Kim, Byoung-Chul Kim, Hyojung Ryu, Whan-Hyuk Choi, HyunJoo Choi, et al.

Frontiers in Cardiovascular Medicine • 2023

A method for early diagnosis of lung cancer from tumor originated DNA fragments using plasma cfDNA methylome and fragmentome profiles

Yeo Jin Kim, Hahyeon Jeon, Sungwon Jeon, Sung-Hun Lee, Changjae Kim, Ji-Hye Ahn, Hyojin Um, et al.

Molecular and Cellular Probes • 2022

A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

Jeongeun Lee, Jean Lee, Sungwon Jeon, Jeongha Lee, Insu Jang, Jin Ok Yang, et al.

Experimental & Molecular Medicine • 2022

Northeastern Asian and Jomon-related genetic structure in the Three Kingdoms period of Gimhae, Korea

Pere Gelabert, Asta Blazyte, Yongjoon Chang, Daniel M Fernandes, Sungwon Jeon, et al.

Current Biology • 2022

The Kiss of Death: Serratia marcescens Antibacterial Activities against Staphylococcus aureus Requires Both de novo Prodigiosin Synthesis and Direct Contact

Sungbin Lim, Jihun Bhak, Sungwon Jeon, Wonsik Mun, Jong Bhak, Seong Yeol Choi, Robert J Mitchell

Microbiology Spectrum • 2022

LT1, an ONT long-read-based assembly scaffolded with Hi-C data and polished with short reads

Hui-Su Kim, Asta Blazyte, Sungwon Jeon, Changhan Yoon, Yeonkyung Kim, Changjae Kim, Dan Bolser, Ji-Hye Ahn, Jeremy S Edwards, Jong Bhak

Gigabyte • 2022

Multiple types of genomic variation contribute to adaptive traits in the mustelid subfamily Guloninae

Lorena Derežanin, Asta Blažytė, Pavel Dobrynin, David A Duchêne, José Horacio Grau, Sungwon Jeon, et al.

Molecular Ecology • 2022

Epigenetic modulation of vascular smooth muscle cell phenotype switching in early-onset acute myocardial infarction

Yeonsu Jeon, Yoonsung Kwon, Yeo Jin Kim, Sungwon Jeon, Hyojung Ryu, Kyungwhan An, et al.

Arteriosclerosis, Thrombosis, and Vascular Biology • 2025

KOREF_S1: phased, parental trio-binned Korean reference genome using long reads and Hi-C sequencing methods

Hui-su Kim, Sungwon Jeon, Yeonkyung Kim, Changjae Kim, Jihun Bhak, Jong Bhak

GigaScience • 2022

Regional TMPRSS2 V197M allele frequencies are correlated with COVID-19 case fatality rates

Sungwon Jeon, Asta Blazyte, Changhan Yoon, Hyojung Ryu, Yeonsu Jeon, Youngjune Bhak, Dan Bolser, Andrea Manica, Eun-Seok Shin, Yun Sung Cho, Byung Chul Kim, Namhee Ryoo, Hansol Choi, Jong Bhak

Molecules and Cells • 2021

Comparative analysis of 7 short-read sequencing platforms using the Korean Reference Genome: MGI and Illumina sequencing benchmark for whole-genome sequencing

Hak-Min Kim, Sungwon Jeon, Oksung Chung, Je Hoon Jun, Hui-Su Kim, Asta Blazyte, et al.

GigaScience • 2021

Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt

Mahmoud ElHefnawi, Elsayed Hegazy, Asmaa Elfiky, Yeonsu Jeon, Sungwon Jeon, Jong Bhak, et al.

Gene • 2021

Welfare genome project: a participatory Korean personal genome project with free health check-up and genetic report followed by counseling

Yeonsu Jeon, Sungwon Jeon, Asta Blazyte, Yeo Jin Kim, Jasmin Junseo Lee, Youngjune Bhak, et al.

Frontiers in Genetics • 2021

Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls

Youngjune Bhak, Yeonsu Jeon, Sungwon Jeon, Changhan Yoon, Min Kim, Asta Blazyte, et al.

PLoS ONE • 2021

Genomic adaptations and evolutionary history of the extinct scimitar-toothed cat, Homotherium latidens

Ross Barnett, Michael V Westbury, Marcela Sandoval-Velasco, Filipe Garrett Vieira, Sungwon Jeon, et al.

Current Biology • 2020

The whale shark genome reveals how genomic and physiological properties scale with body size

Jessica A Weber, Seung Gu Park, Victor Luria, Sungwon Jeon, Hak-Min Kim, Yeonsu Jeon, et al.

Proceedings of the National Academy of Sciences • 2020

Korean Genome Project: 1094 Korean personal genomes with clinical information

Sungwon Jeon, Youngjune Bhak, Yeonsong Choi, Yeonsu Jeon, Seunghoon Kim, Jaeyoung Jang, et al.

Science Advances • 2020

The origin and composition of Korean ethnicity analyzed by ancient and present-day genome sequences

Jungeun Kim, Sungwon Jeon, Jae-Pil Choi, Asta Blazyte, Yeonsu Jeon, Jong-Il Kim, et al.

Genome Biology and Evolution • 2020

Decoding a highly mixed Kazakh genome

Madina Seidualy, Asta Blazyte, Sungwon Jeon, Youngjune Bhak, Yeonsu Jeon, et al.

Human Genetics • 2020

Whole genome analysis of the red-crowned crane provides insight into avian longevity

HyeJin Lee, Jungeun Kim, Jessica A Weber, Oksung Chung, Yun Sung Cho, Sungwoong Jho, JeHoon Jun, Hak-Min Kim, Jeongheui Lim, Jae-Pil Choi, Sungwon Jeon, et al.

Molecules and Cells • 2020

Depression and suicide risk prediction models using blood-derived multi-omics data

Youngjune Bhak, Hyoung-oh Jeong, Yun Sung Cho, Sungwon Jeon, Juok Cho, Jeong-An Gim, et al.

Translational Psychiatry • 2019

The genome of the giant Nomura's jellyfish sheds light on the early evolution of active predation

Hak-Min Kim, Jessica A Weber, Nayoung Lee, Seung Gu Park, Yun Sung Cho, Youngjune Bhak, et al., Sungwon Jeon, et al.

BMC Biology • 2019

The Draft Genome of an Octocoral, Dendronephthya gigantea

Yeonsu Jeon, Seung Gu Park, Nayun Lee, Jessica A Weber, Hui-Su Kim, Sung-Jin Hwang, Seonock Woo, Hak-Min Kim, Youngjune Bhak, Sungwon Jeon, et al.

Genome Biology and Evolution • 2019

The Galleria mellonella hologenome supports microbiota-independent metabolism of long-chain hydrocarbon beeswax

Hyun Gi Kong, Hyun Ho Kim, Joon-hui Chung, JeHoon Jun, Soohyun Lee, Hak-Min Kim, Sungwon Jeon, et al.

Cell Reports • 2019

Whole genome sequencing and bioinformatics analysis of two Egyptian genomes

Mahmoud ElHefnawi, Sungwon Jeon, Youngjune Bhak, Asmaa ElFiky, Ahmed Horaiz, JeHoon Jun, Hyunho Kim, Jong Bhak

Gene • 2018

Myotis rufoniger genome sequence and analyses: M. rufoniger's genomic feature and the decreasing effective population size of Myotis bats

Youngjune Bhak, Yeonsu Jeon, Sungwon Jeon, Oksung Chung, Sungwoong Jho, JeHoon Jun, et al.

PLoS ONE • 2017

Genome-wide data from two early Neolithic East Asian individuals dating to 7700 years ago

Veronika Siska, Eppie Ruth Jones, Sungwon Jeon, Youngjune Bhak, Hak-Min Kim, Yun Sung Cho, et al.

Science Advances • 2017

Comparison of carnivore, omnivore, and herbivore mammalian genomes with a new leopard assembly

Soonok Kim, Yun Sung Cho, Hak-Min Kim, Oksung Chung, Hyunho Kim, Sungwoong Jho, et al., Sungwon Jeon, et al.

Genome Biology • 2016

The genetics of an early Neolithic pastoralist from the Zagros, Iran

Marcos Gallego-Llorente, Sarah Connell, Eppie R Jones, Deborah C Merrett, Y Jeon, Anders Eriksson, Veronika Siska, et al., Sungwon Jeon, et al.

Scientific Reports • 2016