CGB - Universidad Mayor

14 febrero 2019

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

DOI : 10.1038/s41598-019-39391-z

Dra. Elena A. Vidal

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 × 106 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


Investigadores Participantes del Centro


Doctora en Ciencias Biológicas, mención Genética Molecular y Microbiología, Pontificia Universidad Católica de Chile.



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