OpenCGA uses a hierarchical structure to organize datasets. Briefly, Projects, Studies and Cohorts are used to organize HGVA metadata:
Projects can contain one or more Studies. A project specifies a species and assembly, all studies from the same project are stored in the same database and share variant annotation.
Study, in turn, represents a particular data set with/without samples metadata, cohorts, and obviously genomic variation data. For example, The 1000 Genomes Project is defined as a study in OpenCGA. Likewise, The Genome of the Netherlads or the Exome Aggregation Consortium are also two different studies, and so on.
Finally, a cohort is simply a set of samples defined within a study. For example, populations and super-populations within The 1000 Genomes Project are defined as cohorts. Thus, EUR, AMR or GBR are examples of cohorts.
Here you can get more info about OpenCGA Catalog data models. Projects and Studies have unique alias to ease their usage. Please, see below the full list of currently available datasets (loaded as studies) in HGVA and how they are organised in different projects.
Studies
Project name (alias)
Studies
HGVA Version/Date
v1 (Dec. 2016)
v2 (June 2017)
Reference GRCh37 (reference_grch37)
1000 genomes project GRCh37
Phase 3 2016-05
Phase 3 2016-05
Exome Sequencing Project
2016-05
2016-05
Exome Aggregation Consortium
0.3.1 2016-05
0.3.1 2016-05
Genome of the Netherlands
Release 5 2016-05
Release 5 2016-05
UK10K project
2016-05
2016-05
Spanish Medical Genome Project
2016-12
2016-12
gnomAD Exome and Genome
-
2017-05
Reference GRCh38
(reference_grch38)
1000 genomes project GRCh38
Phase 3 2016-10
Phase 3 2016-10
ESP6500
-
Cancer GRCh37
(cancer_grch37)
QIMR Berghofer Melanoma
2016-12
2016-12
Chronic Myeloid Leukemia - Russian Academy of Medical Sciences
2016-12
2016-12
Platinum
(platinum)
Illumina Platinum
2015-08
2015-08
Variant annotation was carried out by the CellBase project. Please, check CellBase documentation for details on additional data sources: Data sources and species