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

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dc.contributor.authorVidal, Elena A.
dc.contributor.authorMoyano, Tomás C.
dc.contributor.authorBustos, Bernabé I.
dc.contributor.authorPérez-Palma, Eduardo
dc.contributor.authorMoraga, Carol
dc.contributor.authorRiveras, Eleodoro
dc.contributor.authorMontecinos, Alejandro
dc.contributor.authorAzócar, Lorena
dc.contributor.authorSoto, Daniela C.
dc.contributor.authorVidal, Mabel
dc.contributor.authorGenova, Alex Di
dc.contributor.authorPuschel, Klaus
dc.contributor.authorNürnberg, Peter
dc.contributor.authorBuch, Stephan
dc.contributor.authorHampe, Jochen
dc.contributor.authorAllende, Miguel L.
dc.contributor.authorCambiazo, Verónica
dc.contributor.authorGonzález, Mauricio
dc.contributor.authorHodar, , Christian
dc.contributor.authorMontecino, Martín
dc.contributor.authorMuñoz-Espinoza, Claudia
dc.contributor.authorOrellana, Ariel
dc.contributor.authorReyes-Jara, Angélica
dc.contributor.authorTravisany, Dante
dc.contributor.authorVizoso, Paula
dc.contributor.authorMoraga, Mauricio
dc.contributor.authorEyheramendy, Susana
dc.contributor.authorMaass, Alejandro
dc.contributor.authorFerrari, Giancarlo V. De
dc.contributor.authorMiquel, Juan Francisco
dc.contributor.authorGutiérrez, Rodrigo A.
dc.date.accessioned2021-11-08T16:33:30Z
dc.date.available2021-11-08T16:33:30Z
dc.date.issued2019-12
dc.descriptionIndexación: Scopues
dc.description.abstractWhole 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 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. © 2019, The Author(s).es
dc.description.urihttps://www-nature-com.recursosbiblioteca.unab.cl/articles/s41598-019-39391-z.pdf
dc.identifier.citationScientific Reports Volume 9, Issue 11 December 2019 Article number 2132es
dc.identifier.doi10.1038/s41598-019-39391-z
dc.identifier.issn20452322
dc.identifier.urihttp://repositorio.unab.cl/xmlui/handle/ria/20793
dc.language.isoenes
dc.publisherNature Publishing Groupes
dc.rights.licenseAtribución 4.0 Internacional (CC BY 4.0)
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/deed.es
dc.subjectAdultes
dc.subjectAgedes
dc.subjectAged, 80 and overes
dc.subjectChilees
dc.subjectCohort Studieses
dc.subjectDNA Copy Number Variationses
dc.subjectEthnic Groupses
dc.subjectFemalees
dc.subjectGenetic Markerses
dc.subjectGenetics, Populationes
dc.subjectGenome, Humanes
dc.subjectGenomicses
dc.subjectHaplotypeses
dc.subjectHumanses
dc.subjectMalees
dc.subjectMiddle Agedes
dc.subjectPolymorphism, Single Nucleotidees
dc.subjectWhole Genome Sequencinges
dc.subjectYoung Adultes
dc.titleWhole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americanses
dc.typeArtículoes
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