study
Identifier
Section titled “Identifier”Description
Section titled “Description”Metadata for all complex trait GWAS and molecular QTL studies in the Platform.
The dataset includes study metadata, phenotype information, sample sizes, publication information and more.
Molecular QTL studies are split by their target trait (e.g. gene, splice junction, etc), biosample (tissue, cell type or cell line) and condition (e.g. stimulation, time period, etc), potentially leading to tens of thousands of studies derived from the same publication [Genetics]
Partitions
Section titled “Partitions”release'26.06'
Schema
Section titled “Schema”| Column | Type | Description |
|---|---|---|
studyId |
TEXT |
Unique identifier of the GWAS or molQTL study. |
geneId |
TEXT |
Ensembl identifier of the gene representing a specific gene whose molecular is being analysed in molQTL study [bioregistry:ensembl] |
projectId |
TEXT |
Identifier of the source project collection that the study information is derived from |
studyType |
TEXT |
Field specifying if study contains phenotype/disease or molecular genetic associations |
traitFromSource |
TEXT |
Molecular or phenotypic trait, derived from source, analysed in the study |
traitFromSourceMappedIds |
TEXT[] |
Phenotypic trait IDs that map to the analysed trait reported by study |
biosampleFromSourceId |
TEXT |
Identifier of the referenced biological material |
pubmedId |
TEXT |
PubMed identifier of the publication that references the study [bioregistry:pubmed] |
publicationTitle |
TEXT |
Title of the publication that references the study |
publicationFirstAuthor |
TEXT |
Last name and initials of the author of the publication that references the study |
publicationDate |
TEXT |
Date of the publication that references the study |
publicationJournal |
TEXT |
Abbreviated journal name where the publication referencing study was published |
backgroundTraitFromSourceMappedIds |
TEXT[] |
Any background trait(s) shared by all individuals in the study |
initialSampleSize |
TEXT |
Study initial sample size |
nCases |
INT |
The number of cases in this broad ancestry group |
nControls |
INT |
The number of controls in this broad ancestry group |
nSamples |
INT |
The number of samples tested in GWAS analysis |
cohorts |
TEXT[] |
List of cohort(s) represented in the discovery sample |
ldPopulationStructure |
STRUCT(ldPopulation TEXT, relativeSampleSize DOUBLE)[] |
Collection of populations referenced by the study |
discoverySamples |
STRUCT(sampleSize INT, ancestry TEXT)[] |
Collection of ancestries reported by the study discovery phase |
replicationSamples |
STRUCT(sampleSize INT, ancestry TEXT)[] |
Collection of ancestries reported by the study replication phase |
qualityControls |
TEXT[] |
Control metrics refining study validation |
analysisFlags |
TEXT[] |
Collection of flags indicating the type of the analysis conducted in the association study |
summarystatsLocation |
TEXT |
Path to the source study summary statistics (if exists at the source) |
hasSumstats |
BOOLEAN |
Indication whether the summary statistics exist in the source |
condition |
TEXT |
Reported sample conditions |
sumstatQCValues |
STRUCT(QCCheckName TEXT, QCCheckValue FLOAT)[] |
Mapping of quality control flags |
diseaseIds |
TEXT[] |
Disease identifier associated with a studied trait |
backgroundDiseaseIds |
TEXT[] |
Any background disease(s) shared by all individuals in the study |
biosampleId |
TEXT |
Biosample identifier that maps to the biosample reported by study [bioregistry:uberon] |
release |
TEXT |
Partition column. Open Targets Platform release version (major.minor), e.g. 26.06. [Added during ingest.] |