CCPM Biobank exploration services

 

TIS facilitates access to general exploratory information on CCPM Biobank data available for research purposes. Currently, TIS offers two main exploration services: 

  • Cohort exploration: aggregate counts of Biobank participants within a defined cohort (e.g. patients < 60 years of age with lung cancer)
  • Genotype coverage for specific SNPs or region of interest (e.g. has a specific single nucleotide polymorphism (SNP) of interest been genotyped?)

 

Cohort exploration

Before submitting a formal request for Biobank resources, you can request aggregate counts of Biobank participants within your defined cohort. 

Examples of questions suitable for cohort exploration request:

  • How many male Biobank participants have been diagnosed with the specific disease or have undergone a procedure of interest?
  • How many samples are available in the Biobank from participants that belong to your cohort of interest?
  • What is the allele count and/or allele frequency for a SNP of interest?

 

Genotype coverage

Specimens obtained from CCPM Biobank participants were genotyped with the help of the Illumina MEGA chip. The raw MEGA chip data was obtained from over 1.7 million SNPs. Imputation adds an additional 50 million SNPs available on genotyped Biobank participants. 

TIS provides a coverage check to determine if your SNP or region of interest has been genotyped on the MEGA chip or imputed in a subsequent analysis.

Examples of questions suitable for genotype coverage requests:

  • Has a SNP of interest been genotyped and passed quality control on the MEGA chip?
  • Did a specific SNP get imputed, and what was the quality of imputation?
  • Is my SNP of interest available within the most recent research data freeze?

 

How to submit an exploration request

For CU and UCHealth investigators: Please click here to be directed to our investigator exploration survey.