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Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. | LitMetric

AI Article Synopsis

  • - Whole human genome sequencing provides insights into population history and genetic diseases, but there's limited data on Southern Cone Native Americans, particularly the Mapuche-Huilliche from Southern Chile.
  • - A study of 11 Mapuche-Huilliche individuals revealed around 3.1 million single nucleotide variants, including 403,383 novel variants, along with numerous copy number and structural variants, indicating a genetically distinct population with indigenous ancestry.
  • - The findings highlight genetic variants linked to major health issues in Chile, suggesting potential tools for diagnostics and prevention in both native and mixed Latin American populations.

Article Abstract

Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the information of the genomic structure of Native Americans, especially those from the Southern Cone is scant. Here we present annotation and variant discovery from high-quality complete genome sequences of a cohort of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile. We found approximately 3.1 × 10 single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs events. Analyses of large-scale genomic events detected 680 copy number variants (CNVs) and 4,514 structural variants (SVs), including 398 and 1,910 novel events, respectively. Global ancestry composition of HUI genomes revealed that the cohort represents a sample from a marginally admixed population from the Southern Cone, whose main genetic component derives from Native American ancestors. Additionally, we found that HUI genomes contain variants in genes associated with 5 of the 6 leading causes of noncommunicable diseases in Chile, which may have an impact on the risk of prevalent diseases in Chilean and Amerindian populations. Our data represents a useful resource that can contribute to population-based studies and for the design of early diagnostics or prevention tools for Native and admixed Latin American populations.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376018PMC
http://dx.doi.org/10.1038/s41598-019-39391-zDOI Listing

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