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The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data

The International Genome Sample Resource (IGSR; http://www.internationalgenome.org) expands in data type and population diversity the resources from the 1000 Genomes Project. IGSR represents the largest open collection of human variation data and provides easy access to these resources. IGSR was est...

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Autores principales: Clarke, Laura, Fairley, Susan, Zheng-Bradley, Xiangqun, Streeter, Ian, Perry, Emily, Lowy, Ernesto, Tassé, Anne-Marie, Flicek, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210610/
https://www.ncbi.nlm.nih.gov/pubmed/27638885
http://dx.doi.org/10.1093/nar/gkw829
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author Clarke, Laura
Fairley, Susan
Zheng-Bradley, Xiangqun
Streeter, Ian
Perry, Emily
Lowy, Ernesto
Tassé, Anne-Marie
Flicek, Paul
author_facet Clarke, Laura
Fairley, Susan
Zheng-Bradley, Xiangqun
Streeter, Ian
Perry, Emily
Lowy, Ernesto
Tassé, Anne-Marie
Flicek, Paul
author_sort Clarke, Laura
collection PubMed
description The International Genome Sample Resource (IGSR; http://www.internationalgenome.org) expands in data type and population diversity the resources from the 1000 Genomes Project. IGSR represents the largest open collection of human variation data and provides easy access to these resources. IGSR was established in 2015 to maintain and extend the 1000 Genomes Project data, which has been widely used as a reference set of human variation and by researchers developing analysis methods. IGSR has mapped all of the 1000 Genomes sequence to the newest human reference (GRCh38), and will release updated variant calls to ensure maximal usefulness of the existing data. IGSR is collecting new structural variation data on the 1000 Genomes samples from long read sequencing and other technologies, and will collect relevant functional data into a single comprehensive resource. IGSR is extending coverage with new populations sequenced by collaborating groups. Here, we present the new data and analysis that IGSR has made available. We have also introduced a new data portal that increases discoverability of our data—previously only browseable through our FTP site—by focusing on particular samples, populations or data sets of interest.
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spelling pubmed-52106102017-01-05 The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data Clarke, Laura Fairley, Susan Zheng-Bradley, Xiangqun Streeter, Ian Perry, Emily Lowy, Ernesto Tassé, Anne-Marie Flicek, Paul Nucleic Acids Res Database Issue The International Genome Sample Resource (IGSR; http://www.internationalgenome.org) expands in data type and population diversity the resources from the 1000 Genomes Project. IGSR represents the largest open collection of human variation data and provides easy access to these resources. IGSR was established in 2015 to maintain and extend the 1000 Genomes Project data, which has been widely used as a reference set of human variation and by researchers developing analysis methods. IGSR has mapped all of the 1000 Genomes sequence to the newest human reference (GRCh38), and will release updated variant calls to ensure maximal usefulness of the existing data. IGSR is collecting new structural variation data on the 1000 Genomes samples from long read sequencing and other technologies, and will collect relevant functional data into a single comprehensive resource. IGSR is extending coverage with new populations sequenced by collaborating groups. Here, we present the new data and analysis that IGSR has made available. We have also introduced a new data portal that increases discoverability of our data—previously only browseable through our FTP site—by focusing on particular samples, populations or data sets of interest. Oxford University Press 2017-01-04 2016-09-15 /pmc/articles/PMC5210610/ /pubmed/27638885 http://dx.doi.org/10.1093/nar/gkw829 Text en © The Author(s) 2016. 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
Clarke, Laura
Fairley, Susan
Zheng-Bradley, Xiangqun
Streeter, Ian
Perry, Emily
Lowy, Ernesto
Tassé, Anne-Marie
Flicek, Paul
The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data
title The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data
title_full The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data
title_fullStr The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data
title_full_unstemmed The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data
title_short The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data
title_sort international genome sample resource (igsr): a worldwide collection of genome variation incorporating the 1000 genomes project data
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210610/
https://www.ncbi.nlm.nih.gov/pubmed/27638885
http://dx.doi.org/10.1093/nar/gkw829
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