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PopHuman: the human population genomics browser

The 1000 Genomes Project (1000GP) represents the most comprehensive world-wide nucleotide variation data set so far in humans, providing the sequencing and analysis of 2504 genomes from 26 populations and reporting >84 million variants. The availability of this sequence data provides the human li...

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Autores principales: Casillas, Sònia, Mulet, Roger, Villegas-Mirón, Pablo, Hervas, Sergi, Sanz, Esteve, Velasco, Daniel, Bertranpetit, Jaume, Laayouni, Hafid, Barbadilla, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753332/
https://www.ncbi.nlm.nih.gov/pubmed/29059408
http://dx.doi.org/10.1093/nar/gkx943
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author Casillas, Sònia
Mulet, Roger
Villegas-Mirón, Pablo
Hervas, Sergi
Sanz, Esteve
Velasco, Daniel
Bertranpetit, Jaume
Laayouni, Hafid
Barbadilla, Antonio
author_facet Casillas, Sònia
Mulet, Roger
Villegas-Mirón, Pablo
Hervas, Sergi
Sanz, Esteve
Velasco, Daniel
Bertranpetit, Jaume
Laayouni, Hafid
Barbadilla, Antonio
author_sort Casillas, Sònia
collection PubMed
description The 1000 Genomes Project (1000GP) represents the most comprehensive world-wide nucleotide variation data set so far in humans, providing the sequencing and analysis of 2504 genomes from 26 populations and reporting >84 million variants. The availability of this sequence data provides the human lineage with an invaluable resource for population genomics studies, allowing the testing of molecular population genetics hypotheses and eventually the understanding of the evolutionary dynamics of genetic variation in human populations. Here we present PopHuman, a new population genomics-oriented genome browser based on JBrowse that allows the interactive visualization and retrieval of an extensive inventory of population genetics metrics. Efficient and reliable parameter estimates have been computed using a novel pipeline that faces the unique features and limitations of the 1000GP data, and include a battery of nucleotide variation measures, divergence and linkage disequilibrium parameters, as well as different tests of neutrality, estimated in non-overlapping windows along the chromosomes and in annotated genes for all 26 populations of the 1000GP. PopHuman is open and freely available at http://pophuman.uab.cat.
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spelling pubmed-57533322018-01-05 PopHuman: the human population genomics browser Casillas, Sònia Mulet, Roger Villegas-Mirón, Pablo Hervas, Sergi Sanz, Esteve Velasco, Daniel Bertranpetit, Jaume Laayouni, Hafid Barbadilla, Antonio Nucleic Acids Res Database Issue The 1000 Genomes Project (1000GP) represents the most comprehensive world-wide nucleotide variation data set so far in humans, providing the sequencing and analysis of 2504 genomes from 26 populations and reporting >84 million variants. The availability of this sequence data provides the human lineage with an invaluable resource for population genomics studies, allowing the testing of molecular population genetics hypotheses and eventually the understanding of the evolutionary dynamics of genetic variation in human populations. Here we present PopHuman, a new population genomics-oriented genome browser based on JBrowse that allows the interactive visualization and retrieval of an extensive inventory of population genetics metrics. Efficient and reliable parameter estimates have been computed using a novel pipeline that faces the unique features and limitations of the 1000GP data, and include a battery of nucleotide variation measures, divergence and linkage disequilibrium parameters, as well as different tests of neutrality, estimated in non-overlapping windows along the chromosomes and in annotated genes for all 26 populations of the 1000GP. PopHuman is open and freely available at http://pophuman.uab.cat. Oxford University Press 2018-01-04 2017-10-20 /pmc/articles/PMC5753332/ /pubmed/29059408 http://dx.doi.org/10.1093/nar/gkx943 Text en © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Issue
Casillas, Sònia
Mulet, Roger
Villegas-Mirón, Pablo
Hervas, Sergi
Sanz, Esteve
Velasco, Daniel
Bertranpetit, Jaume
Laayouni, Hafid
Barbadilla, Antonio
PopHuman: the human population genomics browser
title PopHuman: the human population genomics browser
title_full PopHuman: the human population genomics browser
title_fullStr PopHuman: the human population genomics browser
title_full_unstemmed PopHuman: the human population genomics browser
title_short PopHuman: the human population genomics browser
title_sort pophuman: the human population genomics browser
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753332/
https://www.ncbi.nlm.nih.gov/pubmed/29059408
http://dx.doi.org/10.1093/nar/gkx943
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