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为非洲的基因组学、表观遗传学和生物信息学研究构建技能和资源:非洲人类遗传学学会第 11 次会议和 H3Africa 联盟第 12 次会议联合报告,2018 年。

Building Skills and Resources for Genomics, Epigenetics, and Bioinformatics Research for Africa: Report of the Joint 11th Conference of the African Society of Human Genetics and 12th H3Africa Consortium, 2018.

机构信息

Centre for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.

Sydney Brenner Institute for Molecular Bioscience and Division of Human Genetics, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

出版信息

Am J Trop Med Hyg. 2020 Jun;102(6):1417-1424. doi: 10.4269/ajtmh.19-0837.

Abstract

The 11th Congress of the African Society of Human Genetics (AfSHG) was held from September 16, 2018 to September 21, 2018, in conjunction with the 12th Human Heredity and Health in Africa (H3Africa) Consortium meeting in Kigali, Rwanda. The event was organized by the AfSHG in partnership with the Rwanda Society of Human Genetics and the University of Rwanda. A 2-day workshop on the application of next-generation sequencing technologies for analyzing monogenic disease in African populations was organized as part of the conference (September 22, 2018-September 23, 2018, Kigali, Rwanda). The theme of the conference was "Building skills and resources for genomics, epigenetics and bioinformatics research for Africa." The conference served as a platform to bring together members from country-specific Societies of Human Genetics, including Rwanda, Cameroon, Democratic Republic of Congo, Egypt, Mali, Senegal, and South Africa, and included 435 delegates from 38 countries, including 29 African countries that attended the conference. A major topic of discussion was how to bridge the gap between the emerging knowledge on genomics and Omics in African populations. The importance of understanding the role of genetic variation in disease causation and susceptibility among Africans was a constant theme during the meeting, as was the need to develop research infrastructure and resources to enhance healthcare systems, so that they are not left behind in the genomic revolution. It was concluded that there is a need to inspire more African scientists to train and work as investigators, clinicians, and genetic counselors in the field of human genetics in Africa. Local investments, and South-South and South-North collaboration were identified as the key drivers for the successful implementation of research and development on the continent.

摘要

第 11 届非洲人类遗传学学会(AfSHG)大会于 2018 年 9 月 16 日至 21 日在卢旺达基加利与第 12 届非洲人类遗传与健康联盟(H3Africa)会议同期举行。该活动由 AfSHG 与卢旺达人类遗传学学会和卢旺达大学合作组织。会议还组织了为期两天的研讨会,内容是关于应用下一代测序技术分析非洲人群中单基因疾病(2018 年 9 月 22 日至 23 日,卢旺达基加利)。会议的主题是“为非洲的基因组学、表观遗传学和生物信息学研究建立技能和资源”。该会议为聚集来自特定国家人类遗传学学会的成员提供了一个平台,包括卢旺达、喀麦隆、刚果民主共和国、埃及、马里、塞内加尔和南非,来自 38 个国家的 435 名代表参加了会议,其中包括 29 个参加会议的非洲国家。讨论的一个主要议题是如何弥合非洲人群中新兴基因组学和组学知识之间的差距。了解遗传变异在非洲人群中疾病发病机制和易感性中的作用的重要性是会议的一个持续主题,还需要开发研究基础设施和资源,以加强医疗保健系统,使其在基因组革命中不被落下。会议得出的结论是,需要激励更多的非洲科学家在非洲人类遗传学领域接受培训并作为调查员、临床医生和遗传咨询师开展工作。当地投资以及南南合作和南北合作被确定为非洲大陆成功实施研发的关键驱动因素。

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