Evidence map›Paper›PMID 31640730›Full record

ArticleGenome medicine2019

NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants.

Seong-Keun Yoo, Chang-Uk Kim, Hie Lim Kim, Sungjae Kim, Jong-Yeon Shin, Namcheol Kim, Joshua Sung Woo Yang, Kwok-Wai Lo, Belong Cho, Fumihiko Matsuda and 4 more

Abstract read
In one paragraph

Article in Genome medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
–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

36 citing papers in PubMed.

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  8. A novelRenal failure · 2025
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  13. Effects of polygenic risk score and sodium and potassium intake on hypertension in Asians: A nationwide prospective cohort study.Hypertension research : official journal of the Japanese Society of Hypertension · 2024
    Article
  14. Review
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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

14 authors.

Seong-Keun YooPrecision Medicine Center, Seoul National University Bundang Hospital, 172 Dolma-ro, Seongnam, Bundang-gu, Gyeonggi-do, 13605, Republic of Korea.
Chang-Uk KimPrecision Medicine Institute, Macrogen Inc., Seongnam, Republic of Korea.
Hie Lim KimThe Asian School of the Environment, Nanyang Technological University, Singapore, Singapore.
Sungjae KimPrecision Medicine Institute, Macrogen Inc., Seongnam, Republic of Korea.
Jong-Yeon ShinPrecision Medicine Institute, Macrogen Inc., Seongnam, Republic of Korea.
Namcheol KimPrecision Medicine Institute, Macrogen Inc., Seongnam, Republic of Korea.
Joshua Sung Woo YangPrecision Medicine Institute, Macrogen Inc., Seongnam, Republic of Korea.
Kwok-Wai LoDepartment of Anatomical & Cellular Pathology and State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Hong Kong, China.
Belong ChoDepartment of Family Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Fumihiko MatsudaCenter for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Stephan C SchusterSingapore Centre for Environmental Life Sciences Engineering, Nanyang Technological University, Singapore, Singapore.
Changhoon KimPrecision Medicine Institute, Macrogen Inc., Seongnam, Republic of Korea.
Jong-Il KimDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, Republic of Korea.
Jeong-Sun SeoPrecision Medicine Center, Seoul National University Bundang Hospital, 172 Dolma-ro, Seongnam, Bundang-gu, Gyeonggi-do, 13605, Republic of Korea. jeongsunseo@gmail.com.ORCID 0000-0002-5818-5533

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phase 3 (1KGP3). We combined and re-phased the genotypes from NARD and 1KGP3 to construct a union set of haplotypes. This approach established a robust imputation reference panel for Northeast Asians, which yields the greatest imputation accuracy of rare and low-frequency variants compared with the existing panels. NARD imputation panel is available at https://nard.macrogen.com/ .

Indexed as

Genetics, PopulationGenome, HumanGenome-Wide Association StudyPolymorphism, Single NucleotideAsian PeopleGene FrequencyGenotypeHumansReference StandardsWhole Genome SequencingEast AsiansGenotype imputationNortheast AsiansReference panelWhole-genome sequencing

Identifiers

PMID31640730
PMCPMC6805399

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Registered trials

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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.