BRCA-CN: a blockchain-based framework to support public variant databases sharing in multi-center community for diagnostic reference and China regulatory science.

IF 3.6 2区生物学 Q2 GENETICS & HEREDITY

Human Genetics Pub Date : 2025-08-01 Epub Date: 2025-08-31 DOI:10.1007/s00439-025-02764-8

Shoufang Qu, Rongzhi Liu, Shisen Li, Chuanfeng Huang, Yingqian Zhang, Xuan Gao, Pingping Dai, Chao Xu, Rutao Yang, Xuchao Li, Guojun Ouyang, Kang Shao, Xiaoyan Chang, Feng Mu, Meng Yang, Jie Huang

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引用次数: 0

Abstract

High-quality, regulatory-grade databases for precise genetic variant interpretation are critically needed for Chinese populations, where existing fragmented databases impede clinical effectiveness evaluations. We developed BRCA-CN, a consortium blockchain-based governance framework specifically designed for BRCA gene variant interpretation in Chinese populations. Our framework compiled 66,485 variants from 6,031 samples across six Chinese laboratories. A 15-expert panel conducted systematic variant curation using unified interpretation standards based on ACMG/AMP guidelines. Smart contracts ensured data integrity and accountability throughout the consensus process. After deduplication, we established a comprehensive database of 950 unique variants (BRCA1: 365, BRCA2: 585), completing consensus reviews for 607 sites with 462 achieving definitive interpretations. Comparison with ClinVar revealed 83.6% concordance, with AI validation (PrimateAI, REVEL, EVE) confirming high interpretation accuracy. The blockchain framework successfully enabled secure cross-institutional collaboration while maintaining data sovereignty and regulatory compliance. BRCA-CN demonstrates the transformative potential of blockchain technology in genomic medicine, addressing critical challenges in data sharing, standardization, and regulatory oversight. This framework provides a robust foundation for clinical decision-making and establishes a replicable model for population-specific genomic databases. Access to the BRCA-CN portal, user guides, and test data is provided in the supplementary materials, available at: https://oxygen-chamber.mgi-tech.com/sdb2.

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BRCA-CN：基于区块链的框架，支持多中心社区的公共变体数据库共享，用于诊断参考和中国监管科学。

中国人群迫切需要高质量、监管级的精确遗传变异解释数据库，现有的碎片化数据库阻碍了临床有效性评估。我们开发了BRCA- cn，这是一个基于区块链的治理框架，专门为中国人群中BRCA基因变异的解释而设计。我们的框架从6个中国实验室的6031个样本中编译了66485个变体。一个由15名专家组成的小组使用基于ACMG/AMP指南的统一解释标准进行了系统的变异策展。智能合约确保了整个共识过程中的数据完整性和问责制。在重复数据删除后，我们建立了950个独特变异的综合数据库（BRCA1: 365, BRCA2: 585），完成了607个位点的共识审查，其中462个获得了明确的解释。与ClinVar比较，一致性为83.6%，人工智能验证（PrimateAI， REVEL， EVE）证实了较高的解释精度。区块链框架成功地实现了安全的跨机构协作，同时保持了数据主权和法规遵从性。BRCA-CN展示了区块链技术在基因组医学领域的变革潜力，解决了数据共享、标准化和监管监督方面的关键挑战。该框架为临床决策提供了坚实的基础，并为特定人群的基因组数据库建立了可复制的模型。BRCA-CN门户网站的访问、用户指南和测试数据在补充材料中提供，可在https://oxygen-chamber.mgi-tech.com/sdb2获得。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genetics 生物-遗传学

CiteScore

10.80

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.