Human genetics and genomics research in Ecuador: historical survey, current state, and future directions

Zambrano-Mila, Marlon S., Agathos, Spiros N., and Reichardt, Juergen K.V. (2019) Human genetics and genomics research in Ecuador: historical survey, current state, and future directions. Human Genomics, 13. 64.

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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.

Item ID: 62280
Item Type: Article (Research - C1)
ISSN: 1479-7364
Keywords: Human genetics, Human genomics, South America, Ecuador, PubMed, Scopus, Google Scholar, Web of Science, Database search
Funders: Yachay Tech University (YTU), International Development Fund for Economy and Culture
Projects and Grants: YTU grant 39-2017
Date Deposited: 13 Feb 2020 00:07
FoR Codes: 31 BIOLOGICAL SCIENCES > 3105 Genetics > 310599 Genetics not elsewhere classified @ 100%
SEO Codes: 92 HEALTH > 9299 Other Health > 929999 Health not elsewhere classified @ 100%
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