Evidence map›Paper›PMID 32766443›Full record

ArticleScience advances2020

Korean Genome Project: 1094 Korean personal genomes with clinical information.

Sungwon Jeon, Youngjune Bhak, Yeonsong Choi, Yeonsu Jeon, Seunghoon Kim, Jaeyoung Jang, Jinho Jang, Asta Blazyte, Changjae Kim, Yeonkyung Kim and 18 more

Abstract read
In one paragraph

Article in Science advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

72 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  10. Cancer-Like Fragmentomic Characteristics of Somatic Variants in Cell-Free DNA.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Article
  11. Neurofibromin 1 (International journal of molecular sciences · 2026
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12 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

28 authors.

Sungwon JeonKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-2729-9087
Youngjune BhakKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-9273-6984
Yeonsong ChoiKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0003-4940-6071
Yeonsu JeonKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0003-4560-4142
Seunghoon KimKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-2475-9551
Jaeyoung JangKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-6113-821X
Jinho JangKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-7102-6625
Asta BlazyteKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0001-7309-1482
Changjae KimKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-2018-1561
Yeonkyung KimKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-0649-916X
Jungae ShimKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.
Nayeong KimKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.
Yeo Jin KimKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0001-9122-914X
Seung Gu ParkKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0001-6464-5551
Jungeun KimPersonal Genomics Institute (PGI), Genome Research Foundation (GRF), Osong 28160, Republic of Korea.ORCID 0000-0002-6576-5456
Yun Sung ChoClinomics Inc., Ulsan 44919, Republic of Korea.ORCID 0000-0003-4490-8769
Yeshin ParkClinomics Inc., Ulsan 44919, Republic of Korea.
Hak-Min KimKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0001-6066-2469
Byoung-Chul KimClinomics Inc., Ulsan 44919, Republic of Korea.ORCID 0000-0001-7761-3217
Neung-Hwa ParkDepartment of Internal Medicine, University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan 44033, Republic of Korea.ORCID 0000-0002-5648-9189
Eun-Seok ShinDivision of Cardiology, Department of Internal Medicine, Ulsan Medical Center, Ulsan 44686, Republic of Korea.ORCID 0000-0002-9169-6968
Byung Chul KimClinomics Inc., Ulsan 44919, Republic of Korea.ORCID 0000-0002-4891-9679
Dan BolserClinomics Inc., Ulsan 44919, Republic of Korea.ORCID 0000-0002-3991-0859
Andrea ManicaDepartment of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK.ORCID 0000-0003-1895-450X
Jeremy S EdwardsDepartment of Chemistry and Chemical Biology, University of New Mexico and University of New Mexico Comprehensive Cancer Center, Albuquerque, NM 87106, USA.
George ChurchDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-0775-2913
Semin LeeKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-9015-6046
Jong BhakKorean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.ORCID 0000-0002-4228-1299

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present the initial phase of the Korean Genome Project (Korea1K), including 1094 whole genomes (sequenced at an average depth of 31×), along with data of 79 quantitative clinical traits. We identified 39 million single-nucleotide variants and indels of which half were singleton or doubleton and detected Korean-specific patterns based on several types of genomic variations. A genome-wide association study illustrated the power of whole-genome sequences for analyzing clinical traits, identifying nine more significant candidate alleles than previously reported from the same linkage disequilibrium blocks. Also, Korea1K, as a reference, showed better imputation accuracy for Koreans than the 1KGP panel. As proof of utility, germline variants in cancer samples could be filtered out more effectively when the Korea1K variome was used as a panel of normals compared to non-Korean variome sets. Overall, this study shows that Korea1K can be a useful genotypic and phenotypic resource for clinical and ethnogenetic studies.

Indexed as

Genome, HumanGenome-Wide Association StudyAsian PeopleGenotypeHumansPolymorphism, Single NucleotideRepublic of Korea

Identifiers

PMID32766443
PMCPMC7385432

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.