High-throughput sequencing of a South American Amerindian.
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 h...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3875439?pdf=render |
| _version_ | 1819038916387274752 |
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| author | André M Ribeiro-dos-Santos Jorge Estefano Santana de Souza Renan Almeida Dayse O Alencar Maria Silvanira Barbosa Leonor Gusmão Wilson A Silva Sandro J de Souza Artur Silva Ândrea Ribeiro-dos-Santos Sylvain Darnet Sidney Santos |
| author_facet | André M Ribeiro-dos-Santos Jorge Estefano Santana de Souza Renan Almeida Dayse O Alencar Maria Silvanira Barbosa Leonor Gusmão Wilson A Silva Sandro J de Souza Artur Silva Ândrea Ribeiro-dos-Santos Sylvain Darnet Sidney Santos |
| author_sort | André M Ribeiro-dos-Santos |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T08:44:55Z |
| format | Article |
| id | doaj.art-3b26bfac595d40109b6f0c81c74c090d |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-21T08:44:55Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-3b26bfac595d40109b6f0c81c74c090d2022-12-21T19:09:50ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-01812e8334010.1371/journal.pone.0083340High-throughput sequencing of a South American Amerindian.André M Ribeiro-dos-SantosJorge Estefano Santana de SouzaRenan AlmeidaDayse O AlencarMaria Silvanira BarbosaLeonor GusmãoWilson A SilvaSandro J de SouzaArtur SilvaÂndrea Ribeiro-dos-SantosSylvain DarnetSidney SantosThe 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.http://europepmc.org/articles/PMC3875439?pdf=render |
| spellingShingle | André M Ribeiro-dos-Santos Jorge Estefano Santana de Souza Renan Almeida Dayse O Alencar Maria Silvanira Barbosa Leonor Gusmão Wilson A Silva Sandro J de Souza Artur Silva Ândrea Ribeiro-dos-Santos Sylvain Darnet Sidney Santos High-throughput sequencing of a South American Amerindian. PLoS ONE |
| title | High-throughput sequencing of a South American Amerindian. |
| title_full | High-throughput sequencing of a South American Amerindian. |
| title_fullStr | High-throughput sequencing of a South American Amerindian. |
| title_full_unstemmed | High-throughput sequencing of a South American Amerindian. |
| title_short | High-throughput sequencing of a South American Amerindian. |
| title_sort | high throughput sequencing of a south american amerindian |
| url | http://europepmc.org/articles/PMC3875439?pdf=render |
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