Evidence map›Paper›PMID 32042094›Full record

ArticleThe pharmacogenomics journal2020

A high-resolution HLA imputation system for the Taiwanese population: a study of the Taiwan Biobank.

Yu-Han Huang, Seik-Soon Khor, Xiuwen Zheng, Hsuan-Yu Chen, Ya-Hsuan Chang, Hou-Wei Chu, Pei-Ei Wu, Yu-Ju Lin, Shu-Fen Liao, Chen-Yang Shen and 3 more

Abstract readValidation Study
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In one paragraph

Article in The pharmacogenomics journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing 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

19 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. HLA-DQB1*03:01 and risk of HBV-related HCC.Hepatology (Baltimore, Md.) · 2026
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Imputation-Based HLA Typing with GWAS SNPs.Methods in molecular biology (Clifton, N.J.) · 2024
    Article
  11. Review
  12. Article
  13. Article
  14. Analysis ofFrontiers in endocrinology · 2022
    Article
  15. Review
  16. Review
  17. Article
  18. Review
  19. Article
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

13 authors.

Yu-Han Huang *Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
Seik-Soon Khor *Department of Human Genetics, Graduate School of Medicine, the University of Tokyo, Toyo, Japan.ORCID http://orcid.org/0000-0002-6809-4731
Xiuwen ZhengDepartment of Biostatistics, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-1390-0708
Hsuan-Yu ChenInstitute of Statistical Science, Academia Sinica, Taipei, Taiwan.
Ya-Hsuan ChangInstitute of Statistical Science, Academia Sinica, Taipei, Taiwan.
Hou-Wei ChuInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Pei-Ei WuInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Yu-Ju LinInstitute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
Shu-Fen LiaoInstitute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
Chen-Yang ShenInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Katsushi TokunagaDepartment of Human Genetics, Graduate School of Medicine, the University of Tokyo, Toyo, Japan. tokunaga@m.u-tokyo.ac.jp.
Mei-Hsuan LeeInstitute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan. meihlee@ntu.edu.tw.
HLA & KIR imputation network (HKimp.net)

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

An imputation algorithm for human leukocyte antigen (HLA) is helpful for exploring novel disease associations. However, population-specific HLA imputation references are essential for achieving high imputation accuracy. In this study, a subset of 1012 individuals from the Taiwan Biobank (TWB) who underwent both whole-genome SNP array and NGS-based HLA typing were used to establish Taiwanese HLA imputation references. The HIBAG package was used to generate the imputation references for eight HLA loci at a two- and three-field resolution. Internal validation was carried out to evaluate the call threshold and accuracy for each HLA gene. HLA class II genes found to be associated with rheumatoid arthritis (RA) were validated in this study by the imputed HLA alleles. Our Taiwanese population-specific references achieved average HLA imputation accuracies of 98.11% for two-field and 98.08% for three-field resolution. The frequency distribution of imputed HLA alleles among 23,972 TWB subjects were comparable with PCR-based HLA alleles in general Taiwanese reported in the allele frequency net database. We replicated four common HLA alleles (HLA-DRB1*03:01, DRB1*04:05, DQA1*03:03, and DQB1*04:01) significantly associated with RA. The population-specific references provide an informative tool to investigate the associations of HLA variants and human diseases in large-scale population-based studies.

Indexed as

Genetics, PopulationPolymorphism, Single NucleotideArthritis, RheumatoidDatabases, GeneticGenotypeHigh-Throughput Nucleotide SequencingHLA AntigensHLA-DQ alpha-ChainsHLA-DQ beta-ChainsHLA-DRB1 ChainsHumansPhenotypeReproducibility of ResultsTaiwanWhole Genome SequencingHLA AntigensHLA-DQA1 antigenHLA-DQ alpha-ChainsHLA-DQB1 antigenHLA-DQ beta-ChainsHLA-DRB1*03:01 antigenHLA-DRB1*04:05 antigenHLA-DRB1 Chains

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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.