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README.md

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----
-license: other
-license_name: embl-ebi
-license_link: https://www.ebi.ac.uk/about/terms-of-use/
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+---
+license: other
+license_name: embl-ebi
+license_link: https://www.ebi.ac.uk/about/terms-of-use/
+---
+
+# GWAS Catalog Studies
+
+## Dataset Description
+
+This dataset contains study-level metadata from the [NHGRI-EBI GWAS Catalog](https://ebi.ac.uk/gwas), a manually curated repository of published genome-wide association studies (GWAS).
+
+Each record corresponds to a single GWAS publication or study entry curated by the GWAS Catalog. Unlike the [GWAS Associations dataset](https://huggingface.co/datasets/gwascatalog/associations), which represents individual SNP–trait associations, this dataset describes the study itself, including publication metadata, sample descriptions, genotyping platforms, traits investigated, and information about available summary statistics.
+
+The GWAS Catalog aggregates results from thousands of genome-wide association studies and standardises metadata related to studies, cohorts, phenotypes, and genotyping technologies.
+
+This Hugging Face dataset provides a tabular representation of study metadata, enabling research workflows such as:
+
+* bibliometric analysis of GWAS publications
+* meta-analysis of GWAS study designs
+* analysis of cohort composition and population diversity
+* exploration of genotyping technologies used in GWAS
+* linking study metadata with association datasets
+
+---
+
+## Dataset Summary
+
+* Task categories: genomics, biomedical metadata analysis
+* Data type: tabular
+* Primary domain: genome-wide association studies (GWAS)
+* Unit of observation: GWAS study / publication
+* Source: curated literature database
+
+Typical uses include:
+
+* mapping GWAS studies to traits and cohorts
+* analysing sample sizes and population representation
+* linking study metadata with variant–trait association records
+* identifying studies with available summary statistics
+* studying technological trends in genotyping platforms
+
+---
+
+# Dataset Structure
+
+Each row represents a single GWAS study entry in the GWAS Catalog.
+
+## Columns
+
+| Column                     | Description                                                                                                      |
+| -------------------------- | ---------------------------------------------------------------------------------------------------------------- |
+| DATE ADDED TO CATALOG      | Date the study was added to the GWAS Catalog.                                                                    |
+| PUBMEDID                   | PubMed identifier for the publication reporting the study.                                                       |
+| FIRST AUTHOR               | Last name and initials of the first author of the publication.                                                   |
+| DATE                       | Publication date (online/epub date if available).                                                                |
+| JOURNAL                    | Abbreviated journal name in which the study appeared.                                                            |
+| LINK                       | URL linking to the publication record in PubMed.                                                                 |
+| STUDY                      | Title of the publication reporting the GWAS.                                                                     |
+| DISEASE/TRAIT              | Disease or trait investigated in the study.                                                                      |
+| INITIAL SAMPLE SIZE        | Total number of individuals included in the Stage 1 discovery cohort(s) of the GWAS.                             |
+| REPLICATION SAMPLE SIZE    | Total number of individuals included in replication cohort(s) used to validate associations.                     |
+| PLATFORM (SNPS PASSING QC) | Genotyping platform used in the Stage 1 GWAS after quality control filtering of SNPs.                            |
+| ASSOCIATION COUNT          | Number of SNP–trait associations curated for this study in the GWAS Catalog.                                     |
+| MAPPED_TRAIT               | Standardised Experimental Factor Ontology (EFO) trait mapped to the study phenotype.                         |
+| MAPPED_TRAIT_URI           | URI identifier corresponding to the mapped Experimental Factor Ontology trait.                                   |
+| STUDY ACCESSION            | Unique accession identifier assigned to the study in the GWAS Catalog (e.g., GCST identifiers).                  |
+| GENOTYPING TECHNOLOGY      | Genotyping technology used in the study, including array types where applicable (e.g., Immunochip, Exome array). |
+| COHORT                     | Discovery-stage cohort(s) included in the study; multiple cohorts may be listed if applicable.                   |
+| FULL SUMMARY STATISTICS    | Boolean indicator specifying whether full genome-wide summary statistics are available for the study.            |
+| SUMMARY STATS LOCATION     | Repository or location where the full summary statistics can be accessed or downloaded.                          |
+| GxE                        | Indicates whether the study includes a genome-wide genotype-by-environment interaction analysis.                 |
+
+---
+
+# Curation Process
+
+The GWAS Catalog is curated through a combination of automated and manual processes.
+
+### 1. Literature identification
+
+Publications describing genome-wide association studies are identified through:
+
+* literature searches
+* author submissions
+
+### 2. Manual curation
+
+Expert curators review publications and extract key information including:
+
+* variant identifiers (e.g., rsIDs)
+* associated traits or diseases
+* statistical significance metrics
+* effect sizes
+* sample descriptions
+* genomic location information
+
+### 3. Standardisation
+
+Extracted data are normalised using standardised vocabularies and identifiers where possible, including:
+
+* controlled trait terms from the [Experimental Factor Ontology (EFO)](https://www.ebi.ac.uk/efo/)
+* genomic coordinates
+* gene identifiers
+
+### 4. Annotation
+
+Variants are annotated with additional genomic information such as:
+
+* mapped genes
+* variant context (e.g., intronic, intergenic)
+* genomic distances to nearby genes
+
+### 5. Quality control
+
+Curated records undergo internal quality checks to ensure:
+
+* consistency across records
+* correct variant identifiers
+* valid genomic annotations
+
+For more information about the curation process, please see the GWAS Catalog documentation.
+
+The Hugging Face dataset mirrors the [tabular studies records published by the GWAS Catalog on 2026-03-17](https://www.ebi.ac.uk/gwas/docs/file-downloads).
+
+---
+
+# Bias, Limitations, and Population Representation
+
+Genome-wide association studies have several limitations that affect analyses using this dataset.
+
+## Population Bias
+
+A large proportion of GWAS studies have historically been conducted with individuals genetically similar to European reference populations.
+
+Please note:
+
+* genetic associations may not generalise across populations
+* allele frequencies may differ substantially between ancestries
+* effect sizes may vary across populations
+
+Users should exercise caution when applying results derived from GWAS to diverse populations.
+
+## Publication Bias
+
+Because the catalog is derived from published studies, it may reflect:
+
+* overrepresentation of statistically significant findings
+* underrepresentation of null results
+* bias towards traits that are frequently studied
+
+## Study Heterogeneity
+
+GWAS studies vary substantially in:
+
+* sample size
+* cohort composition
+* phenotype definitions
+* genotyping platforms
+* statistical analysis methods
+
+These factors may influence comparability across studies.
+
+---
+
+# Credits
+
+This dataset is derived from the [NHGRI-EBI GWAS Catalog](https://ebi.ac.uk/gwas).
+
+We would like to thank:
+
+* authors who submit their data to the catalog, including full summary statistics
+* authors of the original GWAS publications included in the catalog
+* GWAS Catalog team members, past and present
+* research participants who contributed data to the underlying genetic studies
+
+---
+
+# Citation
+
+If you use this dataset in research, please cite the GWAS Catalog publication:
+
+Maria Cerezo et al.
+*The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity.*
+Nucleic Acids Research, 2025.
+
+```bibtex
+@article{cerezo2025nhgri,
+  title={The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity},
+  author={Cerezo, Maria and Sollis, Elliot and Ji, Yue and Lewis, Elizabeth and Abid, Ala and Bircan, Karatu{\u{g}} Ozan and Hall, Peggy and Hayhurst, James and John, Sajo and Mosaku, Abayomi and others},
+  journal={Nucleic acids research},
+  volume={53},
+  number={D1},
+  pages={D998--D1005},
+  year={2025},
+  publisher={Oxford University Press}
+}
+```
+
+---
+
+# Licence
+
+The NHGRI-EBI GWAS Catalog and all its contents are available under the [general Terms of Use for EMBL-EBI Services](https://ebi.ac.uk/about/terms-of-use). Summary statistics are made available under CC0 unless otherwise stated.
+
+Consumers of data hosted by the GWAS Catalog should review the licence terms of individual datasets where applicable to their specific use case.