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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Principais autores: Ribeiro-dos-Santos, André M., Souza, Jorge Estefano Santana de, Almeida, Renan, Alencar, Dayse O., Barbosa, Maria Silvanira, Gusmão, Leonor, Silva Jr., Wilson A., Souza, Sandro José de, Silva, Artur, Ribeiro-dos-Santos, Ândrea, Darnet, Sylvain, Santos, Sidney
Formato: article
Idioma:eng
Publicado em:
Assuntos:
sequencing technologies
human genome
genetic variability
evolutionary history
Endereço do item:https://repositorio.ufrn.br/jspui/handle/123456789/23327
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
id ri-123456789-23327
record_format dspace
spelling ri-123456789-233272021-07-09T22:44:07Z High-Throughput Sequencing of a South American Amerindian Ribeiro-dos-Santos, André M. Souza, Jorge Estefano Santana de Almeida, Renan Alencar, Dayse O. Barbosa, Maria Silvanira Gusmão, Leonor Silva Jr., Wilson A. Souza, Sandro José de Silva, Artur Ribeiro-dos-Santos, Ândrea Darnet, Sylvain Santos, Sidney sequencing technologies human genome genetic variability evolutionary history 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. 2017-06-01T12:19:12Z 2017-06-01T12:19:12Z 2013-12-30 article https://repositorio.ufrn.br/jspui/handle/123456789/23327 10.1371/journal.pone.0083340 eng Acesso Aberto application/pdf
institution Repositório Institucional
collection RI - UFRN
language eng
topic sequencing technologies
human genome
genetic variability
evolutionary history
spellingShingle sequencing technologies
human genome
genetic variability
evolutionary history
Ribeiro-dos-Santos, André M.
Souza, Jorge Estefano Santana de
Almeida, Renan
Alencar, Dayse O.
Barbosa, Maria Silvanira
Gusmão, Leonor
Silva Jr., Wilson A.
Souza, Sandro José de
Silva, Artur
Ribeiro-dos-Santos, Ândrea
Darnet, Sylvain
Santos, Sidney
High-Throughput Sequencing of a South American Amerindian
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.
format article
author Ribeiro-dos-Santos, André M.
Souza, Jorge Estefano Santana de
Almeida, Renan
Alencar, Dayse O.
Barbosa, Maria Silvanira
Gusmão, Leonor
Silva Jr., Wilson A.
Souza, Sandro José de
Silva, Artur
Ribeiro-dos-Santos, Ândrea
Darnet, Sylvain
Santos, Sidney
author_facet Ribeiro-dos-Santos, André M.
Souza, Jorge Estefano Santana de
Almeida, Renan
Alencar, Dayse O.
Barbosa, Maria Silvanira
Gusmão, Leonor
Silva Jr., Wilson A.
Souza, Sandro José de
Silva, Artur
Ribeiro-dos-Santos, Ândrea
Darnet, Sylvain
Santos, Sidney
author_sort Ribeiro-dos-Santos, André M.
title High-Throughput Sequencing of a South American Amerindian
title_short 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_sort high-throughput sequencing of a south american amerindian
publishDate 2017
url https://repositorio.ufrn.br/jspui/handle/123456789/23327
work_keys_str_mv AT ribeirodossantosandrem highthroughputsequencingofasouthamericanamerindian
AT souzajorgeestefanosantanade highthroughputsequencingofasouthamericanamerindian
AT almeidarenan highthroughputsequencingofasouthamericanamerindian
AT alencardayseo highthroughputsequencingofasouthamericanamerindian
AT barbosamariasilvanira highthroughputsequencingofasouthamericanamerindian
AT gusmaoleonor highthroughputsequencingofasouthamericanamerindian
AT silvajrwilsona highthroughputsequencingofasouthamericanamerindian
AT souzasandrojosede highthroughputsequencingofasouthamericanamerindian
AT silvaartur highthroughputsequencingofasouthamericanamerindian
AT ribeirodossantosandrea highthroughputsequencingofasouthamericanamerindian
AT darnetsylvain highthroughputsequencingofasouthamericanamerindian
AT santossidney highthroughputsequencingofasouthamericanamerindian
_version_ 1773959176816427008

Registros relacionados