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Published on: August 15, 2019
PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations
Mihir A Kamat1, James A Blackshaw1, Robin Young1
1MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
PhenoScanner V2 significantly expands its genetic association database, now including over 150 million variants and 65 billion associations. This enhanced tool aids researchers in exploring genetic links to diverse human traits and diseases.
Area of Science:
- Genetics
- Bioinformatics
- Human Health
Background:
- PhenoScanner is an established online database for human genetic association studies.
- It enables 'phenome scans' to cross-reference genetic variants with multiple phenotypes.
- Previous version (V1) contained 350 million associations.
Purpose of the Study:
- To present a major update of the PhenoScanner database, termed PhenoScanner V2.
- To enhance the scale and functionality for genetic association analysis.
- To provide researchers with an expanded resource for exploring genotype-phenotype relationships.
Main Methods:
- PhenoScanner V2 integrates over 150 million genetic variants and more than 65 billion associations.
- Query options expanded to include searches by genes, genomic regions, phenotypes, and genetic variants.
- Positional annotation by Variant Effect Predictor and phenotype mapping to Experimental Factor Ontology terms.
Main Results:
- PhenoScanner V2 offers a substantial increase in data volume (over 65 billion associations).
- The database now covers associations with diseases, traits, gene expression, metabolite and protein levels, and epigenetic markers.
- Enhanced search capabilities facilitate comprehensive phenome scans.
Conclusions:
- PhenoScanner V2 represents a significant advancement in genetic association resources.
- The expanded database and improved search functions will accelerate genetic research.
- It provides a powerful platform for discovering genetic underpinnings of human health and disease.
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