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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
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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. |
format | Online Article Text |
id | pubmed-5753332 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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