PhenoScanner: a database of human genotype–phenotype associations

PhenoScanner: a database of human genotype–phenotype associations

2016 | James R. Staley, James Blackshaw, Mihir A. Kamat, Steve Ellis, Praveen Surendran, Benjamin B. Sun, Dirk S. Paul, Daniel Freitag, Stephen Burgess, John Danesh, Robin Young, Adam S. Butterworth
PhenoScanner is a curated database and web-based tool designed to facilitate 'phenome scans' by cross-referencing genetic variants with a wide range of phenotypes. The database contains over 350 million association results and 10 million unique genetic variants, primarily single nucleotide polymorphisms (SNPs). It includes results from large-scale genetic association studies and offers a user-friendly interface to query the database for associations with specified variants and their proxies. The tool aligns alleles, calculates linkage disequilibrium measures, and provides results according to the same effect and non-effect alleles for each input variant. This approach enhances the efficiency and interpretability of phenome scans, aiding in understanding disease pathways, biological insights, and therapeutic target identification. PhenoScanner is available at www.phenoscaner.medschl.cam.ac.uk.PhenoScanner is a curated database and web-based tool designed to facilitate 'phenome scans' by cross-referencing genetic variants with a wide range of phenotypes. The database contains over 350 million association results and 10 million unique genetic variants, primarily single nucleotide polymorphisms (SNPs). It includes results from large-scale genetic association studies and offers a user-friendly interface to query the database for associations with specified variants and their proxies. The tool aligns alleles, calculates linkage disequilibrium measures, and provides results according to the same effect and non-effect alleles for each input variant. This approach enhances the efficiency and interpretability of phenome scans, aiding in understanding disease pathways, biological insights, and therapeutic target identification. PhenoScanner is available at www.phenoscaner.medschl.cam.ac.uk.
Reach us at info@study.space
[slides and audio] PhenoScanner%3A a database of human genotype%E2%80%93phenotype associations