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

Abstract

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.

Figure 1.

Using the IGSR Data Portal. The IGSR Data Portal is a powerful and flexible way to explore the IGSR data. (A) The main page of the portal is a tabular listing of all of the available samples with options for filtering by population, analysis group and data collection. Both sample reference numbers and population names are linked to further specific information and there is a link to the search interface at the top of the page. (B) The search page enables direct access to samples and populations. (C) An individual sample page gives descriptive data about a specific sample including related individuals, how to find more information about it in other databases or purchase cell lines for further experiments, if available. Sample pages also allow for filtering by data collection, data type and analysis group with the resulting data files listed on the bottom right of the page for immediate download. (D) Pages for each population list all of the samples with in the population as well as the options filter by data collection, data type and analysis group. As for the sample page, all available data files are linked from the list on the bottom right of the page.