The 1000 Genomes Project created a catalogue of common human genetic variation, using openly consented samples from people who declared themselves to be healthy. The reference data resources generated by the project remain heavily used by the biomedical science community.
The International Genome Sample Resource (IGSR) maintains and shares the human genetic variation resources built by the 1000 Genomes Project. We also update the resources to the current reference assembly, add new data sets generated from the 1000 Genomes Project samples and add data from projects working with other openly consented samples.
Last year, a group from Johns Hopkins University released Illumina short-read RNA-seq data from 731 cell lines from the 1000 Genomes Project, approximately evenly distributed across the 26 geographically diverse populations. They used these data to examine the genetic sources of variation in gene expression and splicing, including the mapping of expression and splicing quantitative trait loci (e/sQTLs). This work is described in “Sources of gene expression variation in a globally diverse human cohort” by Taylor et al.
More information and links to raw and processed data are available on the MAGE page.