Supporting genome-wide associations beyond SNPs in the GWAS Catalog
Genome-wide association studies (GWAS) for single nucleotide polymorphisms have been supported by the GWAS Catalog since it launched
Standardisation efforts of study metadata and results (such as GWAS-SSF) have enabled downstream reuse, such as polygenic score development or drug discovery pipelines like Open Targets
However, these studies lack any standard data models which limits downstream reuse and FAIRness
This website describes how to structure gene-based GWAS and CNV GWAS for new submissions to the GWAS Catalog
These are draft standards and are not yet fully integrated into our submission system, hence we request that you validate your data locally prior to submission
These proposed standards are evolving and we welcome your feedback, please contact gwas-info@ebi.ac.uk if you are interested in this topic