2017 | Jacqueline MacArthur, Emily Bowler, Maria Cerezo, Laurent Gil, Peggy Hall, Emma Hastings, Heather Jankins, Aoife McMahon, Annalisa Milano, Joannella Morales, Zoe May Pendlington, Danielle Welter, Tony Burdett, Lucia Hindorff, Paul Flicek, Fiona Cunningham and Helen Parkinson
The NHGRI-EBI GWAS Catalog is a publicly available, manually curated resource of all published genome-wide association studies (GWAS) and association results. It was first established in 2005 and has since grown to include 24,218 unique SNP-trait associations from 2,518 publications in 337 different journals as of September 1, 2016. The catalog provides a structured and accessible resource for researchers to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The catalog has been redesigned and relocated to EMBL-EBI, with improvements in data release frequency, curation interface, and user experience. The new infrastructure supports larger arrays, exome and sequencing studies, and allows for the adaptation of the catalog to evolving study designs and technologies.
The catalog includes structured ancestry and recruitment information for all studies, and provides a graphical user interface for searching and visualizing data. The catalog data are used by biologists, bioinformaticians, and clinical researchers to analyze and interpret GWAS results. The catalog also integrates with bioinformatics resources such as Ensembl, the UCSC Genome Browser, PheGenI, HuGE Navigator, and GWASdb.
The catalog has improved data representation and annotation, with enhanced effect size capture, structured terms for key concepts, and improved composite genomic element representation. The catalog has also improved data curation, with a redesigned curation interface that supports progress reporting, data entry, and quality control. The catalog has also improved data access and visualization, with a new website that provides improved querying, navigation, and search functionality.
The catalog has also improved user support, with enhanced documentation, FAQs, and training materials. Future work includes the development of a REST API for programmatic access, advanced searching capabilities, and improved user support. The catalog is committed to providing the most relevant and up-to-date studies and association results, and plans to extend its scope to include all large-scale association studies and SNP-trait associations, regardless of P-value. The catalog is also committed to adapting to new data volumes, study complexity, and user needs.The NHGRI-EBI GWAS Catalog is a publicly available, manually curated resource of all published genome-wide association studies (GWAS) and association results. It was first established in 2005 and has since grown to include 24,218 unique SNP-trait associations from 2,518 publications in 337 different journals as of September 1, 2016. The catalog provides a structured and accessible resource for researchers to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The catalog has been redesigned and relocated to EMBL-EBI, with improvements in data release frequency, curation interface, and user experience. The new infrastructure supports larger arrays, exome and sequencing studies, and allows for the adaptation of the catalog to evolving study designs and technologies.
The catalog includes structured ancestry and recruitment information for all studies, and provides a graphical user interface for searching and visualizing data. The catalog data are used by biologists, bioinformaticians, and clinical researchers to analyze and interpret GWAS results. The catalog also integrates with bioinformatics resources such as Ensembl, the UCSC Genome Browser, PheGenI, HuGE Navigator, and GWASdb.
The catalog has improved data representation and annotation, with enhanced effect size capture, structured terms for key concepts, and improved composite genomic element representation. The catalog has also improved data curation, with a redesigned curation interface that supports progress reporting, data entry, and quality control. The catalog has also improved data access and visualization, with a new website that provides improved querying, navigation, and search functionality.
The catalog has also improved user support, with enhanced documentation, FAQs, and training materials. Future work includes the development of a REST API for programmatic access, advanced searching capabilities, and improved user support. The catalog is committed to providing the most relevant and up-to-date studies and association results, and plans to extend its scope to include all large-scale association studies and SNP-trait associations, regardless of P-value. The catalog is also committed to adapting to new data volumes, study complexity, and user needs.