Bioinformatics · 2018 · 103 citations · 5 references
Life SciencesBiomedical InformaticsGeneticsGenomic Data AnalysisGenomicsMedical GeneticsGenetic Information PrivacyGenome-wide Association StudiesGenomic Data IntegrationGenomic DatabasesGenotype-phenotype Association AnalysisGenotype-phenotype CorrelationAssociation StudiesGenotype-phenotype AssociationsGenotype-phenotype DatabasesGenotype-phenotype LinkagePhenome-wide Association StudiesPhenomicsPhenotype-genotype LinkingSummary Statistics
SUMMARY: Large biobanks linking phenotype to genotype have led to an explosion of genetic association studies across a wide range of phenotypes. Sharing the knowledge generated by these resources with the scientific community remains a challenge due to patient privacy and the vast amount of data. Here, we present Global Biobank Engine (GBE), a web-based tool that enables exploration of the relationship between genotype and phenotype in biobank cohorts, such as the UK Biobank. GBE supports browsing for results from genome-wide association studies, phenome-wide association studies, gene-based tests and genetic correlation between phenotypes. We envision GBE as a platform that facilitates the dissemination of summary statistics from biobanks to the scientific and clinical communities. AVAILABILITY AND IMPLEMENTATION: GBE currently hosts data from the UK Biobank and can be found freely available at biobankengine.stanford.edu.
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Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text
The ExAC browser: displaying reference data information from over 60 000 exomes
Konrad J. Karczewski, Ben Weisburd, Brett Thomas et al. · Nucleic Acids Research · 2016 · 833 citations · Full text