Evidence map›Paper›PMID 38159844›Full record

ArticleJournal of advanced research2024

Complete genomic profiles of 1496 Taiwanese reveal curated medical insights.

Jacob Shujui Hsu, Dung-Chi Wu, Shang-Hung Shih, Jen-Feng Liu, Ya-Chen Tsai, Tung-Lin Lee, Wei-An Chen, Yi-Hsuan Tseng, Yi-Chung Lo, Hong-Ye Lin and 9 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of advanced research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
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

9 citing papers in PubMed, 12 citations in OpenAlex.

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  6. Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026
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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

19 authors at 4 institutions in 1 country.

Jacob Shujui HsuGraduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei 100025, Taiwan; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei 100233, Taiwan.
Dung-Chi WuGenome and Systems Biology Degree Program, National Taiwan University and Academia Sinica, Taipei 10617, Taiwan.
Shang-Hung ShihGenome and Systems Biology Degree Program, National Taiwan University and Academia Sinica, Taipei 10617, Taiwan.
Jen-Feng LiuInstitute of Molecular Medicine, National Taiwan University College of Medicine, Taipei 100233, Taiwan.
Ya-Chen TsaiDepartment of Biomechatronics Engineering, National Taiwan University, Taipei 10617, Taiwan.
Tung-Lin LeeDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100226, Taiwan.
Wei-An ChenDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100226, Taiwan.
Yi-Hsuan TsengGraduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei 100025, Taiwan.
Yi-Chung LoDepartment of Electrical Engineering, National Cheng-Kung University, Tainan 701401, Taiwan.
Hong-Ye LinDepartment of Biomechatronics Engineering, National Taiwan University, Taipei 10617, Taiwan.
Yi-Chieh ChenGraduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei 100025, Taiwan.
Jing-Yi ChenDepartment of Electrical Engineering, National Cheng-Kung University, Tainan 701401, Taiwan.
Ting-Hsuan ChouGraduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei 100025, Taiwan.
Darby Tien-Hao ChangDepartment of Electrical Engineering, National Cheng-Kung University, Tainan 701401, Taiwan; Digital Technology Division, SinoPac Holdings, Taiwan.
Ming Wei SuInstitute of Biomedical Sciences, Academia Sinica, Taipei 115201, Taiwan.
Wei-Hong GuoDepartment of Biomechatronics Engineering, National Taiwan University, Taipei 10617, Taiwan.
Hsin-Hsiang MaoDepartment of Biomechatronics Engineering, National Taiwan University, Taipei 10617, Taiwan.
Chien-Yu ChenGenome and Systems Biology Degree Program, National Taiwan University and Academia Sinica, Taipei 10617, Taiwan; Department of Biomechatronics Engineering, National Taiwan University, Taipei 10617, Taiwan. Electronic address: chienyuchen@ntu.edu.tw.
Pei-Lung ChenGraduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei 100025, Taiwan; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei 100233, Taiwan; Genome and Systems Biology Degree Program, National Taiwan University and Academia Sinica, Taipei 10617, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei 100226, Taiwan; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei 100233, Taiwan. Electronic address: paylong@ntu.edu.tw.
National Taiwan University · TWNational Cheng Kung University · TWNational Taiwan University Hospital · TWInstitute of Biomedical Sciences, Academia Sinica · TW

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThe population of Taiwan has a long history of ethno-cultural evolution. The Taiwanese population was isolated from other large populations such as the European, Han Chinese, and Japanese population. The Taiwan Biobank (TWB) project has built a nationwide database, particularly for personal whole-genome sequence (WGS) to facilitate basic and clinical collaboration nationally and internationally, making it one of the most valuable public datasets of the East Asian population.

objectivesThis study provides comprehensive medical genomic findings from TWB WGS data, for better characterization of disease susceptibility and the choice of ideal treatment regimens in Taiwanese population.

methodsWe reanalyzed 1496 WGS using a PrecisionFDA Truth challenge winner method Sentieon DNAscope. Single nucleotide variants (SNV) and small insertions/deletions (INDEL) were benchmarked. We also analyzed pharmacogenomic (PGx) drug-associated alleles, and copy number variants (CNV). Multiple practicing clinicians reviewed and curated the clinically significant variants. Variant annotations can be browsed at TaiwanGenomes (https://genomes.tw).

resultsWe found that each participant had an average of 6,870.7 globally novel variants and 75.3% (831/1103) of the participants harbored at least one PharmGKB-selected high evidence level human leukocyte antigen (HLA) risk allele. 54 PharmGKB-reported high-level instances of evidence of Cytochrome P450 variant-drug pairs, with a population frequency of over 13.2%. We also identified 23 variants in the ACMG secondary finding V3 gene list from 25 participants, suggesting that 1.67% (25/1496) of the population is harboring at least one medical actionable variant. Our carrier status analyses suggest that one in 25 couples (3.94%) would risk having offspring with at least one pathogenic variant, which is in line with rates found in Japan and Singapore. For pathogenic CNV, we detected 6.88% and 2.02% carrier rates for alpha thalassemia and spinal muscular atrophy, respectively.

conclusionOur study highlights the overall medical insights of a complete Taiwanese genomic profile.

Indexed as

East Asian PeoplePolymorphism, Single NucleotideAdultAgedAllelesDatabases, GeneticDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome, HumanGenomicsHumansINDEL MutationMaleMiddle AgedPharmacogeneticsACMG secondary findingCarrier ratesPopulation allele frequencyTaiwan BiobankV3 gene listWhole genome sequence

Identifiers

PMID38159844
PMCPMC11675050
OpenAlexW4390372943

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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 OpenQuestion graph.