Update README.md
Browse filesTweaked some language & details
README.md
CHANGED
|
@@ -8,25 +8,25 @@ license_link: https://www.ebi.ac.uk/about/terms-of-use/
|
|
| 8 |
|
| 9 |
## Dataset Description
|
| 10 |
|
| 11 |
-
This dataset contains sample-level metadata from the [NHGRI-EBI GWAS Catalog](https://ebi.ac.uk/gwas), describing the
|
| 12 |
|
| 13 |
-
Each record represents a population sample used within a GWAS study, including information about sample size, ancestry category, and geographic origin. The dataset provides a structured representation of the participant populations contributing to published GWAS results.
|
| 14 |
|
| 15 |
-
Unlike the [GWAS Catalog Studies dataset](https://huggingface.co/datasets/gwascatalog/studies), which focuses on
|
| 16 |
|
| 17 |
-
This dataset is particularly valuable for understanding genetic ancestry representation in GWAS research, enabling analyses of population diversity, recruitment geography, and ancestry distribution across studies.
|
| 18 |
|
| 19 |
Typical research uses include:
|
| 20 |
|
|
|
|
|
|
|
| 21 |
* examining ancestry representation in GWAS cohorts
|
| 22 |
* analysing geographic recruitment patterns in genomic studies
|
| 23 |
* studying population diversity across GWAS datasets
|
| 24 |
* assessing ancestry imbalance or underrepresentation in genetic studies
|
| 25 |
-
* linking population metadata with study-level and association-level GWAS data
|
| 26 |
|
| 27 |
-
The GWAS Catalog applies a standardised framework for representing ancestry data in genomics studies. For more details, please see:
|
| 28 |
|
| 29 |
-
|
| 30 |
|
| 31 |
---
|
| 32 |
|
|
@@ -40,9 +40,10 @@ Morales, J., Welter, D., Bowler, E.H. et al. A standardized framework for repres
|
|
| 40 |
|
| 41 |
Typical uses include:
|
| 42 |
|
|
|
|
|
|
|
| 43 |
* analysing ancestry composition of GWAS cohorts
|
| 44 |
* evaluating population diversity in genomic research
|
| 45 |
-
* linking ancestry metadata with GWAS study results
|
| 46 |
* studying recruitment geography and sampling strategies in GWAS
|
| 47 |
|
| 48 |
---
|
|
@@ -92,7 +93,6 @@ Expert curators review publications and extract key information including:
|
|
| 92 |
* statistical significance metrics
|
| 93 |
* effect sizes
|
| 94 |
* sample descriptions
|
| 95 |
-
* genomic location information
|
| 96 |
|
| 97 |
### 3. Standardisation
|
| 98 |
|
|
@@ -101,6 +101,7 @@ Extracted data are normalised using standardised vocabularies and identifiers wh
|
|
| 101 |
* controlled trait terms from the [Experimental Factor Ontology (EFO)](https://www.ebi.ac.uk/efo/)
|
| 102 |
* genomic coordinates
|
| 103 |
* gene identifiers
|
|
|
|
| 104 |
|
| 105 |
### 4. Annotation
|
| 106 |
|
|
|
|
| 8 |
|
| 9 |
## Dataset Description
|
| 10 |
|
| 11 |
+
This dataset contains sample-level metadata from the [NHGRI-EBI GWAS Catalog](https://ebi.ac.uk/gwas), describing the individuals included in genome-wide association studies (GWAS).
|
| 12 |
|
| 13 |
+
Each record represents a population sample used within a GWAS study, including information about sample size, ancestry category label, and geographic origin. The dataset provides a structured representation of the participant populations contributing to published GWAS results.
|
| 14 |
|
| 15 |
+
Unlike the [GWAS Catalog Studies dataset](https://huggingface.co/datasets/gwascatalog/studies), which focuses on study-level metadata, and the [Associations dataset](https://huggingface.co/datasets/gwascatalog/associations), which captures SNP–trait associations, the Samples dataset describes in detail the individuals that the GWAS analysis was based on.
|
| 16 |
|
| 17 |
+
This dataset is particularly valuable for understanding genetic ancestry representation in GWAS research, enabling analyses of population diversity, recruitment geography, and ancestry label distribution across studies.
|
| 18 |
|
| 19 |
Typical research uses include:
|
| 20 |
|
| 21 |
+
* linking sample metadata with study-level and association-level GWAS data
|
| 22 |
+
* understanding statistical power of the GWAS
|
| 23 |
* examining ancestry representation in GWAS cohorts
|
| 24 |
* analysing geographic recruitment patterns in genomic studies
|
| 25 |
* studying population diversity across GWAS datasets
|
| 26 |
* assessing ancestry imbalance or underrepresentation in genetic studies
|
|
|
|
| 27 |
|
|
|
|
| 28 |
|
| 29 |
+
The GWAS Catalog applies a standardised framework for representing ancestry labels in genomics studies. For more details, please read the documentation on the [GWAS Catalog website] (https://www.ebi.ac.uk/gwas/population-descriptors).
|
| 30 |
|
| 31 |
---
|
| 32 |
|
|
|
|
| 40 |
|
| 41 |
Typical uses include:
|
| 42 |
|
| 43 |
+
* linking sample metadata with GWAS study results
|
| 44 |
+
* understanding statistical power of the GWAS
|
| 45 |
* analysing ancestry composition of GWAS cohorts
|
| 46 |
* evaluating population diversity in genomic research
|
|
|
|
| 47 |
* studying recruitment geography and sampling strategies in GWAS
|
| 48 |
|
| 49 |
---
|
|
|
|
| 93 |
* statistical significance metrics
|
| 94 |
* effect sizes
|
| 95 |
* sample descriptions
|
|
|
|
| 96 |
|
| 97 |
### 3. Standardisation
|
| 98 |
|
|
|
|
| 101 |
* controlled trait terms from the [Experimental Factor Ontology (EFO)](https://www.ebi.ac.uk/efo/)
|
| 102 |
* genomic coordinates
|
| 103 |
* gene identifiers
|
| 104 |
+
* standardised ancestry label [framework] (https://link.springer.com/article/10.1186/s13059-018-1396-2)
|
| 105 |
|
| 106 |
### 4. Annotation
|
| 107 |
|