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PhenoScanner: a database of human genotype-phenotype associations
James R Staley1, James Blackshaw1, Mihir A Kamat1
1Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Bioinformatics (Oxford, England)
|June 19, 2016
Summary
PhenoScanner is a database and tool for exploring genetic associations across numerous traits. It aids researchers in understanding disease pathways by cross-referencing genetic variants with many phenotypes, utilizing millions of association results.
Area of Science:
- Genetics
- Bioinformatics
- Computational Biology
Background:
- Large-scale genetic association studies generate vast amounts of data.
- Understanding the relationship between genetic variants and phenotypes is crucial for biological insight.
- Efficient tools are needed to navigate and analyze these complex datasets.
Purpose of the Study:
- To introduce PhenoScanner, a curated database and web-based tool.
- To facilitate 'phenome scans' by cross-referencing genetic variants with multiple phenotypes.
- To aid in the understanding of disease pathways and biological mechanisms.
Main Methods:
- PhenoScanner curates publicly available results from large-scale genetic association studies.
- The database contains over 350 million association results and over 10 million genetic variants (primarily SNPs).
- A web-based tool queries the database for associations with user-specified variants and their proxies.
Main Results:
- PhenoScanner provides a comprehensive resource for genetic association data.
- The tool enables efficient querying of variant-phenotype associations.
- Users can search for trait associations using input variants and their proxies.
Conclusions:
- PhenoScanner serves as a valuable resource for genetic research.
- The tool facilitates the discovery of novel genotype-phenotype relationships.
- It supports the advancement of understanding disease biology and pathways.
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