建立全面的人类泛基因组:SEN-GENOME 项目。

IF 8.1 1区 生物学 Q1 GENETICS & HEREDITY
Amadou Gaye,Andrea Regina G Sene,Macoura Gadji,Alioune Deme,Aynina Cisse,Rokhaya Ndiaye
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引用次数: 0

摘要

人类参考基因组(GRCh38)主要来源于欧洲后裔,无法捕捉到全球人口巨大的遗传多样性。使参考基因组多样化的努力面临着可获取性和代表性方面的挑战,这加剧了非洲基因组数据的稀缺性,而非洲基因组数据对研究这些人群中流行的疾病至关重要。Sherman 等人建议构建适合不同人类亚群的参考基因组。他们的非洲泛基因组计划强调了 GRCh38 人类参考基因组中缺失的大量遗传变异,强调了构建特定人群基因组的必要性。作为回应,塞内加尔基因组项目(SEN-HENOME)等地方性倡议应运而生,以记录历史上被忽视人群的基因组。SEN-GENOME 体现了社区驱动的分散式研究。该项目采用严格的招募标准和道德规范,旨在对塞内加尔 14 个行政区的 31 个民族语言群体的 1000 个基因组进行测序,促进适合该地区的本地基因组研究。SEN-GENOME 成功的关键在于其致力于数据的本地管理、能力建设以及与非洲更广泛的泛基因组项目的整合。尽管数据协调和共享非常复杂,但我们的合作努力与共同目标保持一致,确保在建立全面的人类泛基因组方面取得稳步进展。我们邀请并欢迎与其他研究实体合作,以实现这一共同愿景。总之,像 SEN-GENOME 这样的地方性倡议在弥合基因组差异方面发挥着关键作用,为公平、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对人类基因组有更全面的了解,并通过基因组医学改善健康。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Toward building a comprehensive human pan-genome: The SEN-GENOME project.
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.
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来源期刊
CiteScore
14.70
自引率
4.10%
发文量
185
审稿时长
1 months
期刊介绍: The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.
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