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迈向构建全面的人类泛基因组:SEN-GENOME 项目。

Toward building a comprehensive human pan-genome: The SEN-GENOME project.

机构信息

Department of Integrative Genomics and Epidemiology, School of Graduate Studies, Meharry Medical College, Nashville, TN, USA.

Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop, Dakar, Senegal.

出版信息

Am J Hum Genet. 2024 Oct 3;111(10):2074-2078. doi: 10.1016/j.ajhg.2024.08.017. Epub 2024 Sep 20.

Abstract

The human reference genome (GRCh38), primarily sourced from individuals of European descent, falls short in capturing the vast genetic diversity across global populations. Efforts to diversify the reference genome face challenges in accessibility and representation, exacerbating the scarcity of African genomic data crucial for studying diseases prevalent in these populations. Sherman et al. proposed constructing reference genomes tailored to distinct human sub-populations. Their African Pan-Genome initiative highlighted substantial genetic variation missing from the GRCh38 human reference genome, emphasizing the necessity for population-specific genomes. In response, local initiatives like the Senegalese Genome project (SEN-GENOME) have emerged to document the genomes of historically overlooked populations. SEN-GENOME embodies community-driven decentralized research. With meticulous recruitment criteria and ethical practices, it aims to sequence 1,000 genomes from 31 ethnolinguistic groups, in the fourteen administrative regions of Senegal, fostering local genomic research tailored to the region. The key to SEN-GENOME's success is its commitment to local governance of data, capacity building, and integration with broader pan-genome projects in Africa. Despite the complexities of data harmonization and sharing, our collaborative efforts are aligned with common goals, ensuring steady progress toward a comprehensive human pan-genome. We invite and welcome collaboration with other research entities to achieve this shared vision. In summary, local initiatives such as SEN-GENOME are pivotal in bridging genomic disparities, offering pathways to equitable and inclusive genomic research. Collaborative endeavors guided by a collective vision for human health will propel us toward a more encompassing understanding of the human genome and better health through genomic medicine.

摘要

人类参考基因组(GRCh38)主要来源于欧洲血统的个体,无法捕捉全球人群中广泛的遗传多样性。使参考基因组多样化的努力在可及性和代表性方面面临挑战,加剧了对研究这些人群中常见疾病至关重要的非洲基因组数据的稀缺。Sherman 等人提出构建针对不同人类亚群的参考基因组。他们的非洲泛基因组倡议强调了 GRCh38 人类参考基因组中缺失的大量遗传变异,强调了针对特定人群的基因组的必要性。作为回应,像塞内加尔基因组项目(SEN-GENOME)这样的本地倡议已经出现,以记录历史上被忽视的人群的基因组。SEN-GENOME 体现了社区驱动的分散式研究。通过精心制定的招募标准和道德实践,它旨在从塞内加尔的 14 个行政区的 31 个民族语言群体中测序 1000 个基因组,为该地区量身定制本地基因组研究。SEN-GENOME 成功的关键在于其对数据的本地治理、能力建设以及与非洲泛基因组项目的整合的承诺。尽管数据协调和共享存在复杂性,但我们的合作努力与共同目标保持一致,确保朝着全面的人类泛基因组稳步前进。我们邀请并欢迎其他研究实体合作,实现这一共同愿景。总之,像 SEN-GENOME 这样的本地倡议在弥合基因组差异方面发挥着关键作用,为公平和包容的基因组研究提供了途径。以人类健康的集体愿景为指导的合作努力将推动我们更全面地理解人类基因组,并通过基因组医学实现更好的健康。

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