非洲基因组学研究的五个优先事项:下一个前沿。

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY Annual review of genomics and human genetics Pub Date : 2022-05-16 DOI:10.1146/annurev-genom-111521-102452
A. Wonkam, N. S. Munung, C. Dandara, K. Esoh, N. Hanchard, G. Landouré
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引用次数: 9

摘要

为了实现准确诊断数千种单基因疾病、预测复杂性状或疾病的疾病风险、根据个体的药物遗传特征定制治疗以及可能治愈某些疾病的前景,对非洲基因组变异的研究是一项科学上的迫切需要。在现代人类30万年的进化史中,伴随着连续的混合、迁徙和自然选择浪潮,非洲基因组中积累了数百万未捕获的变异,与广泛的生态多样性相结合,创造了广泛而非凡的基因组复杂性。因此,利用非洲基因组的复杂性将需要科学界和资助机构的持续承诺和公平合作。非洲政府必须支持学术公共研究和工业伙伴关系,以建立必要的基因医学劳动力,利用新兴的基因组大数据来发展计算机科学和生物信息学方面的专业知识,并发展国家和全球治理框架,以认识到数据驱动的基因组研究的伦理影响,并授权其在非洲社会、文化、经济和宗教背景下的应用。预计《基因组学与人类遗传学年度评论》第23卷的最终在线出版日期为2022年10月。修订后的估计数请参阅http://www.annualreviews.org/page/journal/pubdates。
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Five Priorities of African Genomics Research: The Next Frontier.
To embrace the prospects of accurately diagnosing thousands of monogenic conditions, predicting disease risks for complex traits or diseases, tailoring treatment to individuals' pharmacogenetic profiles, and potentially curing some diseases, research into African genomic variation is a scientific imperative. African genomes harbor millions of uncaptured variants accumulated over 300,000 years of modern humans' evolutionary history, with successive waves of admixture, migration, and natural selection combining with extensive ecological diversity to create a broad and exceptional genomic complexity. Harnessing African genomic complexity, therefore, will require sustained commitment and equitable collaboration from the scientific community and funding agencies. African governments must support academic public research and industrial partnerships that build the necessary genetic medicine workforce, utilize the emerging genomic big data to develop expertise in computer science and bioinformatics, and evolve national and global governance frameworks that recognize the ethical implications of data-driven genomic research and empower its application in African social, cultural, economic, and religious contexts. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 23 is October 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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