Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics
Abstract Large-scale national biobank projects utilizing whole-genome sequencing have emerged as transformative resources for understanding human genetic variation and its relationship to health and disease. These initiatives, which include the UK Biobank, All of Us Research Program, Singapore’s PRE...
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BioMed Central
2025-03-01
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| Series: | Genomics & Informatics |
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| Online Access: | https://doi.org/10.1186/s44342-025-00040-9 |
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| author | Hyeji Lee Wooheon Kim Nahyeon Kwon Chanhee Kim Sungmin Kim Joon-Yong An |
| author_facet | Hyeji Lee Wooheon Kim Nahyeon Kwon Chanhee Kim Sungmin Kim Joon-Yong An |
| author_sort | Hyeji Lee |
| collection | DOAJ |
| description | Abstract Large-scale national biobank projects utilizing whole-genome sequencing have emerged as transformative resources for understanding human genetic variation and its relationship to health and disease. These initiatives, which include the UK Biobank, All of Us Research Program, Singapore’s PRECISE, Biobank Japan, and the National Project of Bio-Big Data of Korea, are generating unprecedented volumes of high-resolution genomic data integrated with comprehensive phenotypic, environmental, and clinical information. This review examines the methodologies, contributions, and challenges of major WGS-based national genome projects worldwide. We first discuss the landscape of national biobank initiatives, highlighting their distinct approaches to data collection, participant recruitment, and phenotype characterization. We then introduce recent technological advances that enable efficient processing and analysis of large-scale WGS data, including improvements in variant calling algorithms, innovative methods for creating multi-sample VCFs, optimized data storage formats, and cloud-based computing solutions. The review synthesizes key discoveries from these projects, particularly in identifying expression quantitative trait loci and rare variants associated with complex diseases. Our review introduces the latest findings from the National Project of Bio-Big Data of Korea, which has advanced our understanding of population-specific genetic variation and rare diseases in Korean and East Asian populations. Finally, we discuss future directions and challenges in maximizing the impact of these resources on precision medicine and global health equity. This comprehensive examination demonstrates how large-scale national genome projects are revolutionizing genetic research and healthcare delivery while highlighting the importance of continued investment in diverse, population-specific genomic resources. |
| format | Article |
| id | doaj-art-e3bef781d6084739803721c35140d202 |
| institution | DOAJ |
| issn | 2234-0742 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-e3bef781d6084739803721c35140d2022025-08-20T02:59:23ZengBioMed CentralGenomics & Informatics2234-07422025-03-0123111610.1186/s44342-025-00040-9Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomicsHyeji Lee0Wooheon Kim1Nahyeon Kwon2Chanhee Kim3Sungmin Kim4Joon-Yong An5Department of Integrated Biomedical and Life Science, Korea UniversitySchool of Biosystem and Biomedical Science, College of Health Science, Korea UniversityDepartment of Integrated Biomedical and Life Science, Korea UniversityDepartment of Integrated Biomedical and Life Science, Korea UniversityDepartment of Integrated Biomedical and Life Science, Korea UniversityDepartment of Integrated Biomedical and Life Science, Korea UniversityAbstract Large-scale national biobank projects utilizing whole-genome sequencing have emerged as transformative resources for understanding human genetic variation and its relationship to health and disease. These initiatives, which include the UK Biobank, All of Us Research Program, Singapore’s PRECISE, Biobank Japan, and the National Project of Bio-Big Data of Korea, are generating unprecedented volumes of high-resolution genomic data integrated with comprehensive phenotypic, environmental, and clinical information. This review examines the methodologies, contributions, and challenges of major WGS-based national genome projects worldwide. We first discuss the landscape of national biobank initiatives, highlighting their distinct approaches to data collection, participant recruitment, and phenotype characterization. We then introduce recent technological advances that enable efficient processing and analysis of large-scale WGS data, including improvements in variant calling algorithms, innovative methods for creating multi-sample VCFs, optimized data storage formats, and cloud-based computing solutions. The review synthesizes key discoveries from these projects, particularly in identifying expression quantitative trait loci and rare variants associated with complex diseases. Our review introduces the latest findings from the National Project of Bio-Big Data of Korea, which has advanced our understanding of population-specific genetic variation and rare diseases in Korean and East Asian populations. Finally, we discuss future directions and challenges in maximizing the impact of these resources on precision medicine and global health equity. This comprehensive examination demonstrates how large-scale national genome projects are revolutionizing genetic research and healthcare delivery while highlighting the importance of continued investment in diverse, population-specific genomic resources.https://doi.org/10.1186/s44342-025-00040-9Whole-genome sequencingBiobankPrecision medicineMulti-omics integrationPopulation genetics |
| spellingShingle | Hyeji Lee Wooheon Kim Nahyeon Kwon Chanhee Kim Sungmin Kim Joon-Yong An Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics Genomics & Informatics Whole-genome sequencing Biobank Precision medicine Multi-omics integration Population genetics |
| title | Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics |
| title_full | Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics |
| title_fullStr | Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics |
| title_full_unstemmed | Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics |
| title_short | Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics |
| title_sort | lessons from national biobank projects utilizing whole genome sequencing for population scale genomics |
| topic | Whole-genome sequencing Biobank Precision medicine Multi-omics integration Population genetics |
| url | https://doi.org/10.1186/s44342-025-00040-9 |
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