Cargando…
The International Genome Sample Resource (IGSR) collection of open human genomic variation resources
To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established. It is built on the foundation of the 1000 Genomes Project, which created the largest openly accessible catalogue of human genom...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943028/ https://www.ncbi.nlm.nih.gov/pubmed/31584097 http://dx.doi.org/10.1093/nar/gkz836 |
_version_ | 1783484803325100032 |
---|---|
author | Fairley, Susan Lowy-Gallego, Ernesto Perry, Emily Flicek, Paul |
author_facet | Fairley, Susan Lowy-Gallego, Ernesto Perry, Emily Flicek, Paul |
author_sort | Fairley, Susan |
collection | PubMed |
description | To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established. It is built on the foundation of the 1000 Genomes Project, which created the largest openly accessible catalogue of human genomic variation developed from samples spanning five continents. IGSR (i) maintains access to 1000 Genomes Project resources, (ii) updates 1000 Genomes Project resources to the GRCh38 human reference assembly, (iii) adds new data generated on 1000 Genomes Project cell lines, (iv) shares data from samples with a similarly open consent to increase the number of samples and populations represented in the resources and (v) provides support to users of these resources. Among recent updates are the release of variation calls from 1000 Genomes Project data calculated directly on GRCh38 and the addition of high coverage sequence data for the 2504 samples in the 1000 Genomes Project phase three panel. The data portal, which facilitates web-based exploration of the IGSR resources, has been updated to include samples which were not part of the 1000 Genomes Project and now presents a unified view of data and samples across almost 5000 samples from multiple studies. All data is fully open and publicly accessible. |
format | Online Article Text |
id | pubmed-6943028 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-69430282020-01-08 The International Genome Sample Resource (IGSR) collection of open human genomic variation resources Fairley, Susan Lowy-Gallego, Ernesto Perry, Emily Flicek, Paul Nucleic Acids Res Database Issue To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established. It is built on the foundation of the 1000 Genomes Project, which created the largest openly accessible catalogue of human genomic variation developed from samples spanning five continents. IGSR (i) maintains access to 1000 Genomes Project resources, (ii) updates 1000 Genomes Project resources to the GRCh38 human reference assembly, (iii) adds new data generated on 1000 Genomes Project cell lines, (iv) shares data from samples with a similarly open consent to increase the number of samples and populations represented in the resources and (v) provides support to users of these resources. Among recent updates are the release of variation calls from 1000 Genomes Project data calculated directly on GRCh38 and the addition of high coverage sequence data for the 2504 samples in the 1000 Genomes Project phase three panel. The data portal, which facilitates web-based exploration of the IGSR resources, has been updated to include samples which were not part of the 1000 Genomes Project and now presents a unified view of data and samples across almost 5000 samples from multiple studies. All data is fully open and publicly accessible. Oxford University Press 2020-01-08 2019-10-04 /pmc/articles/PMC6943028/ /pubmed/31584097 http://dx.doi.org/10.1093/nar/gkz836 Text en © The Author(s) 2019. 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 Fairley, Susan Lowy-Gallego, Ernesto Perry, Emily Flicek, Paul The International Genome Sample Resource (IGSR) collection of open human genomic variation resources |
title | The International Genome Sample Resource (IGSR) collection of open human genomic variation resources |
title_full | The International Genome Sample Resource (IGSR) collection of open human genomic variation resources |
title_fullStr | The International Genome Sample Resource (IGSR) collection of open human genomic variation resources |
title_full_unstemmed | The International Genome Sample Resource (IGSR) collection of open human genomic variation resources |
title_short | The International Genome Sample Resource (IGSR) collection of open human genomic variation resources |
title_sort | international genome sample resource (igsr) collection of open human genomic variation resources |
topic | Database Issue |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943028/ https://www.ncbi.nlm.nih.gov/pubmed/31584097 http://dx.doi.org/10.1093/nar/gkz836 |
work_keys_str_mv | AT fairleysusan theinternationalgenomesampleresourceigsrcollectionofopenhumangenomicvariationresources AT lowygallegoernesto theinternationalgenomesampleresourceigsrcollectionofopenhumangenomicvariationresources AT perryemily theinternationalgenomesampleresourceigsrcollectionofopenhumangenomicvariationresources AT flicekpaul theinternationalgenomesampleresourceigsrcollectionofopenhumangenomicvariationresources AT fairleysusan internationalgenomesampleresourceigsrcollectionofopenhumangenomicvariationresources AT lowygallegoernesto internationalgenomesampleresourceigsrcollectionofopenhumangenomicvariationresources AT perryemily internationalgenomesampleresourceigsrcollectionofopenhumangenomicvariationresources AT flicekpaul internationalgenomesampleresourceigsrcollectionofopenhumangenomicvariationresources |