A Tale of Native American Whole-Genome Sequencing and Other Technologies

Abstract

Indigenous people from the American continent, or Native Americans, are underrepresented in the collective genomic knowledge. A minimal percentage of individuals in international databases belong to these important minority groups. Yet, the study of native American genomics is a growing field. In this work, we reviewed 56 scientific publications where ancient or contemporary DNA of Native Americans across the continent was studied by array, whole-exome, or whole-genome technologies. In total, 13,706 native Americans have been studied with genomic technologies, of which 1292 provided whole genome samples. Data availability is lacking, with barely 3.6% of the contemporary samples clearly accessible for further studies; in striking contrast, 96.3% of the ancient samples are publicly available. We compiled census data on the home countries and found that 607 indigenous groups are still missing representation in genomic datasets. By analyzing authorship of the published works, we found that there is a need for more involvement of the home countries as leads in indigenous genomic studies. We provide this review to aid in the design of future studies that aim to reduce the missing diversity of indigenous Americans.