Genetic data delivery services

 

TIS partners with the Access to Biobank Committee (ABC) to deliver genotype data on CCPM Biobank participants for approved research and operational use. 

The following types of data are available:

  • Raw genotype data - direct genotype output from the MEGA chip (no QC checks performed) 
  • QC'd genotype data - set of SNPs and samples from the MEGA chip QC'd and cleaned by TIS
  • Imputed genotype data - genotypes that pass quality control and were imputed to the TOPMed server

Genetic data can be paired with clinical information such as procedure codes, diagnosis codes, and general demographics. Requests for genetic data paired with protected health information (PHI) requires special permission from the ABC.

 

Raw genotype data

 

De-identified VCF file(s) of ~34,000 Biobank patients across ~1.8 million variants directly genotyped on MEGA (or subset; no quality control) delivered to a Health Data Compass Eureka instance (Google Cloud) or other secure location approved by the Security and Compliance Committee. 

 

QC'd genotype data

 

De-identified VCF file(s) of ~33,800 Biobank patients across ~1.7 million variants genotyped on MEGA (or subset; with TIS quality control) delivered to a Eureka Google Cloud instance or other secure location approved by Health Data Compass Security and Compliance Committee. 

 

Imputed genotype data

 

De-identified VCF file(s) of ~33,800 Biobank patients across ~50 million variants genotyped on MEGA and subsequently imputed from TOPMed(or subset; with TIS quality control) delivered to a Health Data Compass Eureka instance (Google Cloud) or other secure location approved by the Security and Compliance Committee. 

 

How to request Biobank genetic data delivery services

 

The ABC works closely with Health Data Compass to deliver Biobank and clinical resources to investigators throughout the University of Colorado and UCHealth networks.  

 

To inquire about accessing Biobank genetic data for research or operational purposes, please contact the ABC at ABC.assist@ucdenver.edu or schedule a meeting with the ABC manager (Brianna Mayfield, MS) using this link: https://calendly.com/brianna-mayfield/biobank-resource-exploration-meeting.