The International Genome Sample Resource (IGSR) collection of open human genomic variation resources

Author:

Fairley Susan1ORCID,Lowy-Gallego Ernesto1ORCID,Perry Emily1ORCID,Flicek Paul1ORCID

Affiliation:

1. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK

Abstract

Abstract 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.

Funder

Wellcome Trust

National Institutes of Health

European Molecular Biology Laboratory

Publisher

Oxford University Press (OUP)

Subject

Genetics

Reference12 articles.

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4. A global reference for human genetic variation;The 1000 Genomes Project Consortium;Nature,2015

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