Vidal, Elena A., Moyano, Tomas C., Bustos, Bernabe, I, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Moraga, Carol, Riveras, Eleodoro, Montecinos, Alejandro, Azocar, Lorena, Soto, Daniela C., Vidal, Mabel, Di Genoval, Alex, Puschel, Klaus, Nurnberg, Peter, Buch, Stephan, Hampe, Jochen ORCID: 0000-0002-2421-6127, Allende, Miguel L., Cambiazo, Veronica, Gonzalez, Mauricio, Hodar, Christian ORCID: 0000-0001-8617-7998, Montecino, Martin, Munoz-Espinoza, Claudia, Orellana, Ariel ORCID: 0000-0002-9243-808X, Reyes-Jara, Angelica ORCID: 0000-0002-5354-4322, Travisanyl, Dante, Vizoso, Paula, Moraga, Mauricio, Eyheramendy, Susana, Maass, Alejandro ORCID: 0000-0002-7038-4527, De Ferrari, Giancarlo, V, Mique, Juan Francisco and Gutierrez, Rodrigo A. (2019). Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

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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 x 10(6) 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Vidal, Elena A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moyano, Tomas C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bustos, Bernabe, IUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Perez-Palma, EduardoUNSPECIFIEDorcid.org/0000-0003-0546-5141UNSPECIFIED
Moraga, CarolUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riveras, EleodoroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Montecinos, AlejandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Azocar, LorenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soto, Daniela C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vidal, MabelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Di Genoval, AlexUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Puschel, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nurnberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buch, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hampe, JochenUNSPECIFIEDorcid.org/0000-0002-2421-6127UNSPECIFIED
Allende, Miguel L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cambiazo, VeronicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez, MauricioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hodar, ChristianUNSPECIFIEDorcid.org/0000-0001-8617-7998UNSPECIFIED
Montecino, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Munoz-Espinoza, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orellana, ArielUNSPECIFIEDorcid.org/0000-0002-9243-808XUNSPECIFIED
Reyes-Jara, AngelicaUNSPECIFIEDorcid.org/0000-0002-5354-4322UNSPECIFIED
Travisanyl, DanteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vizoso, PaulaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moraga, MauricioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eyheramendy, SusanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maass, AlejandroUNSPECIFIEDorcid.org/0000-0002-7038-4527UNSPECIFIED
De Ferrari, Giancarlo, VUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mique, Juan FranciscoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gutierrez, Rodrigo A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-156655
DOI: 10.1038/s41598-019-39391-z
Journal or Publication Title: Sci Rep
Volume: 9
Date: 2019
Publisher: NATURE PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 2045-2322
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
POPULATION-STRUCTURE; CHILEAN POPULATION; GENETIC-VARIATION; MTHFR; SUSCEPTIBILITY; MAPMultiple languages
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/15665

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