Whole genome sequence of Mapuche-Huilliche Native Americans

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dc.catalogadorjlo
dc.contributor.authorVidal Olate, Elena Alejandra
dc.contributor.authorMoyano Yugovic, Tomás Custodio
dc.contributor.authorBustos, Bernabé I.
dc.contributor.authorPérez-Palma, Eduardo
dc.contributor.authorMoraga Marín, Carol Mabel
dc.contributor.authorMontecinos López, Alejandro
dc.contributor.authorAzócar López, Lorena Karina
dc.contributor.authorSoto Wilder, Daniela Constanza
dc.contributor.authorRiveras, Eleodoro
dc.contributor.authorVidal, Mabel
dc.contributor.authorGenova, Alex Di
dc.contributor.authorPuschel Illanes, Klaus
dc.contributor.authorNürnberg, Peter
dc.contributor.authorBuch, Stephan
dc.contributor.authorHampe, Jochen
dc.contributor.authorEyheramendy Duerr, Susana
dc.contributor.authorMiquel Poblete, Juan Francisco
dc.contributor.authorGutiérrez Ilabaca, Rodrigo Antonio
dc.date.accessioned2024-08-07T20:17:57Z
dc.date.available2024-08-07T20:17:57Z
dc.date.issued2018
dc.description.abstractBackground Whole human genome sequencing initiatives provide a compendium of genetic variants that help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations and information on the genomic structure of Native Americans, especially those from the Southern Cone is scant. Results Here we present a high-quality complete genome sequence of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile (85% genomic and 98% exonic coverage at > 30X), with 96-97% high confidence calls. We found approximately 3.1x106 single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs that are not included in current sequencing databases. 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 marginally admixed population from the Southern Cone, whose genetic component is derived from early Native American ancestors. In addition, we found that HUI genomes display highly divergent and novel variants with potential functional impact that converge in ontological categories essential in cell metabolic processes. Conclusions Mapuche-Huilliche genomes contain a unique set of small- and large-scale genomic variants in functionally linked genes, which may contribute to susceptibility for the development of common complex diseases or traits in admixed Latinos and Native American populations. Our data represents an ancestral reference panel for population-based studies in Native and admixed Latin American populations
dc.fechaingreso.objetodigital2024-08-07
dc.format.extent34 páginas
dc.fuente.origenORCID
dc.identifier.doi10.1101/252619
dc.identifier.issn2692-8205
dc.identifier.urihttp://dx.doi.org/10.1101/252619
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-85095646101&partnerID=MN8TOARS
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/87342
dc.information.autorucFacultad de Ciencias Biológicas; Vidal Olate, Elena Alejandra; S/I; 119466
dc.information.autorucFacultad de Ciencias Biológicas; Moyano Yugovic, Tomás Custodio; S/I; 149778
dc.information.autorucEscuela de Medicina; Moraga Marín, Carol Mabel; S/I; 1260324
dc.information.autorucEscuela de Medicina; Azócar López, Lorena Karina; S/I; 1006324
dc.information.autorucFacultad de Ciencias Biológicas; Soto Wilder, Daniela Constanza; S/I; 1010773
dc.information.autorucEscuela de Medicina; Puschel Illanes, Klaus; 0000-0002-1362-1311; 83957
dc.information.autorucFacultad de Matemáticas; Eyheramendy Duerr, Susana; S/I; 82611
dc.information.autorucEscuela de Medicina; Miquel Poblete, Juan Francisco; 0000-0002-0526-4377; 72216
dc.information.autorucFacultad de Ciencias Biológicas; Gutiérrez Ilabaca, Rodrigo Antonio; 0000-0002-5961-5005; 86782
dc.language.isoen
dc.nota.accesocontenido completo
dc.revistaBioRxiv
dc.rightsacceso abierto
dc.subjectMapuche-Huilliche
dc.subjectNative American
dc.subjectStructural DNA variation
dc.subjectWhole genome
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleWhole genome sequence of Mapuche-Huilliche Native Americans
dc.typepreprint
sipa.codpersvinculados119466
sipa.codpersvinculados149778
sipa.codpersvinculados1260324
sipa.codpersvinculados1006324
sipa.codpersvinculados1010773
sipa.codpersvinculados83957
sipa.codpersvinculados82611
sipa.codpersvinculados72216
sipa.codpersvinculados86782
sipa.trazabilidadORCID;2024-08-05
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