title: High-throughput sequencing of a South American Amerindian.
abstract: The emergence of next-generation sequencing technologies allowed access to the vast amounts of information that are contained in the human genome. This information has contributed to the understanding of individual and population-based variability and improved the understanding of the evolutionary history of different human groups. However, the genome of a representative of the Amerindian populations had not been previously sequenced. Thus, the genome of an individual from a South American tribe was completely sequenced to further the understanding of the genetic variability of Amerindians. A total of 36.8 giga base pairs (Gbp) were sequenced and aligned with the human genome. These Gbp corresponded to 95.92% of the human genome with an estimated miscall rate of 0.0035 per sequenced bp. The data obtained from the alignment were used for SNP (single-nucleotide) and INDEL (insertion-deletion) calling, which resulted in the identification of 502,017 polymorphisms, of which 32,275 were potentially new high-confidence SNPs and 33,795 new INDELs, specific of South Native American populations. The authenticity of the sample as a member of the South Native American populations was confirmed through the analysis of the uniparental (maternal and paternal) lineages. The autosomal comparison distinguished the investigated sample from others continental populations and revealed a close relation to the Eastern Asian populations and Aboriginal Australian. Although, the findings did not discard the classical model of America settlement; it brought new insides to the understanding of the human population history. The present study indicates a remarkable genetic variability in human populations that must still be identified and contributes to the understanding of the genetic variability of South Native American populations and of the human populations history.
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brazil.
authors.forename: André M
authors.initials: AM
authors.lastname: Ribeiro-dos-Santos
authors.affiliation: Centro Regional de Hemoterapia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil ; Institute of Bioinformatics and Biotechnology, São Paulo, São Paulo, Brazil.
authors.forename: Jorge Estefano Santana
authors.initials: JE
authors.lastname: de Souza
authors.affiliation: Institute of Bioinformatics and Biotechnology, São Paulo, São Paulo, Brazil.
authors.forename: Renan
authors.initials: R
authors.lastname: Almeida
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brazil.
authors.forename: Dayse O
authors.initials: DO
authors.lastname: Alencar
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brazil.
authors.forename: Maria Silvanira
authors.initials: MS
authors.lastname: Barbosa
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brazil ; Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
authors.affiliation: Centro Regional de Hemoterapia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil ; Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil.
authors.forename: Wilson A
authors.initials: WA
authors.lastname: Silva
authors.affiliation: Institute of Bioinformatics and Biotechnology, São Paulo, São Paulo, Brazil ; Brain Institute, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil.
authors.forename: Sandro J
authors.initials: SJ
authors.lastname: de Souza
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brazil.
authors.forename: Artur
authors.initials: A
authors.lastname: Silva
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brazil.
authors.forename: Ândrea
authors.initials: Â
authors.lastname: Ribeiro-dos-Santos
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brazil.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Darnet
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brazil.
authors.forename: Sidney
authors.initials: S
authors.lastname: Santos
mesh_terms: D016000:Cluster Analysis; D004272:DNA, Mitochondrial; D008040:Genetic Linkage; D005828:Genetics, Population; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D054643:INDEL Mutation; D007199:Indians, South American / Q000235:genetics*; D058977:Molecular Sequence Annotation; D020641:Polymorphism, Single Nucleotide; D044382:Population Groups / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial