BACKGROUND In South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century. In Ecuador, the historical record of human genetics and genomics research is limited. In this context, our work analyzes the current status and historical panorama of these fields, based on bibliographic searches in Scopus, Google Scholar, PubMed, and Web of Science. RESULTS Our results determined that the oldest paper in human genetics coauthored by an Ecuadorian institution originates from the Central University of Ecuador in 1978. From a historical standpoint, the number of articles has increased since the 1990s. This growth has intensified and it is reflected in 137 manuscripts recorded from 2010 to 2019. Areas such as human population genetics, phylogeography, and forensic sciences are the core of genetics and genomics-associated research in Ecuador. Important advances have been made in the understanding of the bases of cancer, some genetic diseases, and congenital disorders. Fields such as pharmacogenetics and pharmacogenomics have begun to be explored during the last years. CONCLUSIONS This work paints a comprehensive picture and provides additional insights into the future panorama of human genetic and genomic research in Ecuador as an example of an emerging, resource-limited country with interesting phylogeographic characteristics and public health implications.

中文翻译：

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厄瓜多尔的人类遗传学和基因组学研究：历史调查，当前状态和未来方向。

背景技术在南美，人类遗传学的历史十分广泛，其起源可以追溯到20世纪初。在厄瓜多尔，人类遗传学和基因组学研究的历史记录是有限的。在这种情况下，我们的工作基于Scopus，Google Scholar，PubMed和Web of Science中的书目搜索来分析这些领域的当前状态和历史全景。结果我们的结果确定了由厄瓜多尔机构合着的人类遗传学最古老的论文起源于1978年的厄瓜多尔中央大学。从历史的角度来看，自1990年代以来，论文的数量一直在增加。这种增长加剧了，反映在2010年至2019年记录的137篇手稿中。诸如人口遗传学，系统地理学，法医科学是厄瓜多尔与遗传学和基因组学相关的研究的核心。在了解癌症，某些遗传疾病和先天性疾病的基础方面已取得重要进展。在最近几年中，药物遗传学和药物基因组学等领域已经开始探索。结论这项工作描绘了一个全面的图景，并提供了对厄瓜多尔人类基因和基因组研究的未来全景的更多见解，作为一个新兴的，资源有限的国家的例子，该国家具有有趣的植物学特征和公共卫生意义。在最近几年中，药物遗传学和药物基因组学等领域已经开始探索。结论这项工作描绘了一个全面的图景，并提供了对厄瓜多尔人类基因和基因组研究的未来全景的更多见解，作为一个新兴的，资源有限的国家的例子，该国家具有有趣的植物学特征和公共卫生意义。在最近几年中，药物遗传学和药物基因组学等领域已经开始探索。结论这项工作描绘了一个全面的图景，并提供了对厄瓜多尔人类基因和基因组研究的未来全景的更多见解，作为一个新兴的，资源有限的国家的例子，该国家具有有趣的植物学特征和公共卫生意义。