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The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

📅 November 9, 2022 👤 Elliot Sollis, Abayomi Mosaku, Ala Abid et al. 📖 Nucleic Acids Research 📊 1,720 citations

🤖 Plain-English Summary

The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industry. cancer, and we continue to contribute to awareness of the lack of population diversity in GWAS.

🔑 Key Findings

  • The Catalog contains variant-trait associations and supporting metadata for >45 000 published GWAS across >5000 human traits, and >40 000 full P-value summary statistics datasets.
  • Content is curated from publications or acquired via author submission of prepublication summary statistics through a new submission portal and validation tool.
  • GWAS data volume has vastly increased in recent years.

💡 Why This Matters

Understanding this could lead to better treatments, improved diagnostics, or a deeper grasp of how the human body works — benefiting patient care globally.

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📋 Article Details

Category 🧬 Medicine & Biology
Published Nov 09, 2022
Journal Nucleic Acids Research
Authors Elliot Sollis, Abayomi Mosaku, Ala Abid, Annalisa Buniello, María Cerezo
DOI 10.1093/nar/gkac1010
Citations 1,720
Source OpenAlex

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