Example Queries

Click any example to run it in the research assistant. Queries use natural language — the search engine maps your words to the appropriate catalog facets automatically.

Study metadata

Search by hosting platform, molecular data type, or study design methodology.

Platforms

Available options:

  • AnVIL
  • BDC
  • CRDC
  • dbGaP
  • KFDRC

Data types

Available options:

  • AMPLICON
  • ATAC-seq
  • Bisulfite-Seq
  • ChIP-Seq
  • CNV (NGS)
  • CNV Genotypes
  • Hi-C
  • Metabolomics
  • Methylation (CpG)
  • miRNA-Seq
  • mRNA Expression (Array)
  • Proteomics
  • RNA Seq (NGS)
  • RNA-Seq
  • SNP Genotypes (Array)
  • SNP Genotypes (imputed)
  • SNP Genotypes (NGS)
  • SNP/CNV (Array)
  • SNP/CNV Genotypes (imputed)
  • SNP/CNV Genotypes (NGS)
  • SNV (.MAF)
  • Targeted-Capture
  • WGA
  • WGS
  • WXS

Study designs

Available options:

  • Case-Control
  • Case Set
  • Clinical Genetic Testing
  • Clinical Trial
  • Collection
  • Control Set
  • Cross-Sectional
  • Family/Twin/Trios
  • Interventional
  • Mendelian
  • Metagenomics
  • Prospective Longitudinal Cohort
  • Tumor vs. Matched-Normal
  • Xenograft

Harmonized variables

Search across 170,000+ phenotype variables classified into a hierarchical measurement vocabulary. Describe what a variable measures in plain language and the system matches it to the closest concept.

Measurements are organized in a 4-level hierarchy with ~20 top-level categories and ~6,300 leaf concepts. Searching a parent concept (e.g., "ECG measurements") returns all descendant variables across child concepts automatically.

MeSH disease hierarchy

Disease focus areas organized by the NLM Medical Subject Headings (MeSH) ontology. Describe a disease in plain language and the system matches it to the appropriate MeSH term.

MeSH terms are organized in a polyhierarchy of ~950 disease terms. Searching a broad term like "Cardiovascular Diseases" returns studies tagged with any descendant disease, such as Coronary Artery Disease, Atrial Fibrillation, or Heart Failure.

Consent codes

Search over GA4GH data use conditions using natural language. Describe your access requirements and the system maps them to consent code filters.

Consent codes follow the GA4GH framework. Base codes include GRU (General Research Use), HMB (Health/Medical/Biomedical), and DS (Disease-Specific). Modifiers further restrict access: IRB (requires IRB approval), NPU (non-profit use only), PUB (publication required), COL (collaboration required), GSO (genetic studies only), and MDS (methods development only).

Inferred ancestry

Genetically computed population ancestry across study participants.

Computed ancestry values

Available options:

  • African
  • African American
  • East Asian
  • European
  • Hispanic1
  • Hispanic2
  • Other
  • Other Asian or Pacific Islander
  • South Asian

Demographics

Self-reported sex, race, and ethnicity of study cohorts.

Sex

Available options:

  • Female
  • Male
  • Other/Unknown

Race/Ethnicity

Available options:

  • American Indian or Alaska Native
  • Asian
  • Black or African American
  • Hispanic or Latino
  • Multiple
  • Native Hawaiian or Other Pacific Islander
  • Other
  • Unknown/Not Reported
  • White