Colorado Biobank Portal Demonstration

Tuesday, January 25, 2022 12pm to 1pm

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Are you interested in using genomic data from the Colorado Center for Personalized Medicine (CCPM)? Exploration of the CCPM resource is now enabled with the Colorado Biobank Portal. The website supports queries across ~1,300 genome-wide association studies using ICD-derived PheCodes. The GWAS runs were performed on full TOPMed imputation and involve ~50 million sites along the genome in our currently-genotyped freeze of ~34,000 CCPM participants.

What can you do?

  • Query by phenotype: Most phenotypes will autocomplete in the search bar. The mapping of phenotypes from ICD codes is available at https://phewascatalog.org/
  • Query by chromosome and position: The Portal shows SNP density in your region.
  • Query by gene or transcript: The portal shows all SNPs annotated to a gene as a table and a plot with variants in or near coding regions.
  • Do a phenome-wide association study (PheWAS) on the fly by querying a SNP of interest.

This tool is intended to provide preliminary analyses to support grant proposals and generate hypotheses. It is not a substitute for proper computational phenotype derivation, but it will give you insights on feasibility and next steps. The CCPM will continue to update the resource with GWAS runs and additional functionality for standard genomic analyses as new data is generated.

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