Evidence map›Paper›PMID 42576224›Full record

ArticleJournal of biomedical science2026

A population-specific genomic reference panel for Taiwan: NHRI-RP-1.

Kuang-Huan Cheng, Yi-Rong Chen, Ren-Hua Chung, Ming-Wei Lin, Hui-Ying Weng, Yuh-Ru Lin, Yung-Feng Lin, Jacob Shujui Hsu, Ralph Kirby, Shao-Yuan Chuang and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of biomedical science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

Kuang-Huan ChengInstitute of Bioinformatics and Structural Biology, National Tsing Hua University, Hsinchu, Taiwan.ORCID http://orcid.org/0009-0000-6669-3872
Yi-Rong ChenInstitute of Molecular and Genomic Medicine, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0002-4307-3002
Ren-Hua ChungInstitute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0002-9835-6333
Ming-Wei LinInstitute of Public Health, National Yang Ming Chiao Tung University, Taipei, Taiwan.ORCID http://orcid.org/0000-0003-1523-1015
Hui-Ying WengBiomedical Industry Ph.D. Program, College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan.ORCID http://orcid.org/0000-0002-7281-3022
Yuh-Ru LinInstitute of Molecular and Genomic Medicine, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0009-0004-4043-1080
Yung-Feng LinDepartment of Medicine Research, Taipei Medical University Hospital, Taipei, Taiwan.ORCID http://orcid.org/0000-0002-6961-3687
Jacob Shujui HsuGraduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.ORCID http://orcid.org/0000-0001-7358-5343
Ralph KirbyInstitute of Genetics, National Yang Ming Chiao Tung University, Taipei, Taiwan.ORCID http://orcid.org/0000-0002-9974-0628
Shao-Yuan ChuangInstitute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0003-2138-4771
Yu-Li LiuCenter for Neuropsychiatric Research, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0001-7519-2965
Shiu-Feng Kathy HuangInstitute of Molecular and Genomic Medicine, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0002-0696-5108
Wei J ChenInstitute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0001-5899-5870
Chih-Cheng HsuInstitute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0003-4563-4341
Wayne Huey-Herng SheuInstitute of Molecular and Genomic Medicine, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0002-8805-8340
Shih-Feng TsaiInstitute of Molecular and Genomic Medicine, National Health Research Institutes, Miaoli, Taiwan. petsai@nhri.edu.tw.ORCID http://orcid.org/0000-0002-2538-4130

Funding

National Health Research Institutes MG-110-GP-01National Health Research Institutes MG-114-GP-02National Health Research Institutes MG-114-PP-01
6 · The paper itself

Abstract

backgroundTo enhance the efficiency of identifying rare variants within the Taiwanese population and to support genome-wide association studies (GWAS) and imputation studies for genetic risk prediction in the Han population, we have developed the National Health Research Institutes (NHRI) reference panel (NHRI-RP-1).

methodsNHRI-RP-1 is based on 2,561 whole genome sequences taken from the in-house NHRI datasets. Our objective was to optimize conditions of sample sizes (0.5K, 1K, 1.5K, 2K, 2.5K), minor allele frequency (MAF) thresholds (MAF ≥ 0.05, 0.01, 0.001, 2 × 10

resultsAmong different combinations of relevant parameters, the NHRI-RP-1 (with a 2,500-sample size, MAF ≥ 2 × 10

conclusionsThe use of different reference panels can influence the outcomes of GWAS. Our case studies demonstrate the utility of the NHRI-RP-1 for genetic medicine. Incorporating a population-specific panel such as NHRI-RP-1 can facilitate the development of prediction models using polygenic risk scores for diseases that are common in the Han population.

Indexed as

Genome, HumanGenome-Wide Association StudyGenomicsGene FrequencyHumansPolymorphism, Single NucleotideTaiwanGenome-wide association studyImputationReference panel

Identifiers

PMID42576224
PMCPMC13459345

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.