A5086984949- Research Data Management Practices
- Colorectal Cancer Screening and Detection
- Biomedical Text Mining and Ontologies
- Genetic Associations and Epidemiology
- Oral and Maxillofacial Pathology
- Genetic Syndromes and Imprinting
- Genetic and phenotypic traits in livestock
- Bone Tumor Diagnosis and Treatments
- Epigenetics and DNA Methylation
- Scientific Computing and Data Management
- Radiomics and Machine Learning in Medical Imaging
- Sarcoma Diagnosis and Treatment
- Liver Disease Diagnosis and Treatment
- Race, Genetics, and Society
European Bioinformatics Institute
2022-2025
Aravind Eye Hospital
2019
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 >200 000 users per year from academic research, healthcare industry. contains variant-trait associations supporting metadata for >45 published across >5000 human traits, >40 full P-value summary statistics datasets. Content curated publications or acquired via author submission...
The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to most comprehensive database of human results. Currently, it contains close 7 000 publications >15 traits, from which more than 625 lead associations have been curated. Additionally, 85 full genome-wide summary statistics datasets-containing association data all variants in analysis-are available downstream analyses such meta-analysis, fine-mapping, Mendelian randomisation or...
Abstract Polygenic scores (PGS) have transformed human genetic research and multiple potential clinical applications, including risk stratification for disease prevention prediction of treatment response. Here, we present a series recent enhancements to the PGS Catalog ( www.PGSCatalog.org ), largest findable, accessible, interoperable, reusable (FAIR) repository PGS. These include expansions in data content ancestral diversity as well addition new features. We further Calculator pgsc_calc ,...
Polygenic scores (PGS) can be used to predict an individual's genetic predisposition a heritable trait or disease. In this tutorial you will learn about PGS and the Catalog, open database of existing that reused applied in research clinical settings.
Abstract The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to most comprehensive database of human results. Currently, it contains close 7,000 publications more than 15,000 traits, from which 625,000 lead associations have been curated. Additionally, 85,000 full genome-wide summary statistics datasets - containing association data all variants in analysis are available downstream analyses such meta-analysis, fine-mapping, Mendelian...