ORCID Profile
0000-0002-4623-8642
Current Organisations
University of Naples Federico II
,
European Bioinformatics Institute
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Publisher: Elsevier BV
Date: 10-2021
Publisher: Elsevier BV
Date: 10-2021
Publisher: Oxford University Press (OUP)
Date: 09-11-2022
DOI: 10.1093/NAR/GKAC1010
Abstract: 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 & 000 users per year from academic research, healthcare and industry. The Catalog contains variant-trait associations and supporting metadata for & 000 published GWAS across & human traits, and & 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. We have updated our software to meet this scaling challenge and to enable rapid release of submitted summary statistics. The scope of the repository has expanded to include additional data types of high interest to the community, including sequencing-based GWAS, gene-based analyses and copy number variation analyses. Community outreach has increased the number of shared datasets from under-represented traits, e.g. cancer, and we continue to contribute to awareness of the lack of population ersity in GWAS. Interoperability of the Catalog has been enhanced through links to other resources including the Polygenic Score Catalog and the International Mouse Phenotyping Consortium, refinements to GWAS trait annotation, and the development of a standard format for GWAS data.
Publisher: Springer Science and Business Media LLC
Date: 10-03-2021
Publisher: Cold Spring Harbor Laboratory
Date: 23-05-2020
DOI: 10.1101/2020.05.20.20108217
Abstract: Polygenic [risk] scores (PGS) can enhance prediction and understanding of common diseases and traits. However, the reproducibility of PGS and their subsequent applications in biological and clinical research have been hindered by several factors, including: inadequate and incomplete reporting of PGS development, heterogeneity in evaluation techniques, and inconsistent access to, and distribution of, the information necessary to calculate the scores themselves. To address this we present the PGS Catalog (www.PGSCatalog.org), an open resource for polygenic scores. The PGS Catalog currently contains 192 published PGS from 78 publications for 86 erse traits, including diabetes, cardiovascular diseases, neurological disorders, cancers, as well as traits like BMI and blood lipids. Each PGS is annotated with metadata required for reproducibility as well as accurate application in independent studies. Using the PGS Catalog, we demonstrate that multiple PGS can be systematically evaluated to generate comparable performance metrics. The PGS Catalog has capabilities for user deposition, expert curation and programmatic access, thus providing the community with an open platform for polygenic score research and translation.
Publisher: Oxford University Press (OUP)
Date: 16-11-2018
DOI: 10.1093/NAR/GKY1120
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Annalisa Buniello.