Mariño-Ramírez Leonardo, Sharma Shivam, Hamilton James Matthew, Nguyen Thanh Long, Gupta Sonali, Natarajan Aravinth Venkatesh, Nagar Shashwat Deepali, Menuey Jay Landon, Chen Wei-An, Sánchez-Gómez Adalberto, Satizábal-Soto José María, Martínez Beatriz, Marrugo Javier, Medina-Rivas Miguel A, Gallo Juan Esteban, Jordan I King, Valderrama-Aguirre Augusto
bioRxiv. 2025 May 1:2025.04.28.651081. doi: 10.1101/2025.04.28.651081.
The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO) aims to build a community of Colombian researchers in support of local capacity in genomics, bioinformatics, and precision health. Here, we present the first CÓDIGO data release and the consortium web platform, including annotations for more than 95 million genetic variants from 1,441 samples representing 14 populations from across the country. CÓDIGO samples show a wide range of African (16.7%), European (50.6%), and Indigenous American (32.8%) genetic ancestry components, with five distinct ancestry clusters. Thousands of ancestry-enriched variants, with divergent allele frequencies across clusters, show pharmacogenomic and clinical genetic associations. Examples include African ancestry-enriched variants associated with fast metabolism of the immunosuppressive drug tacrolimus and malaria resistance and European ancestry-enriched variants associated with nicotine dependence and hereditary hemochromatosis. CÓDIGO reveals the nexus between ancestry and health in Colombia and underscores the utility of collaborative genome sequence analysis efforts.
哥伦比亚基因组多样性、血统与健康联盟（CÓDIGO）旨在建立一个哥伦比亚研究人员社区，以支持当地在基因组学、生物信息学和精准健康方面的能力。在此，我们展示了CÓDIGO的首次数据发布以及联盟网络平台，包括来自代表该国14个群体的1441个样本的9500多万个基因变异的注释。CÓDIGO样本显示出广泛的非洲（16.7%）、欧洲（50.6%）和美洲原住民（32.8%）遗传血统成分，有五个不同的血统簇。数千个在各簇中具有不同等位基因频率的血统富集变异显示出药物基因组学和临床遗传学关联。例子包括与免疫抑制药物他克莫司的快速代谢和疟疾抗性相关的非洲血统富集变异，以及与尼古丁依赖和遗传性血色素沉着症相关的欧洲血统富集变异。CÓDIGO揭示了哥伦比亚血统与健康之间的联系，并强调了合作基因组序列分析工作的实用性。
