Genetic data analysis services
TIS partners with the Access to Biobank Committee to offer the following genetic data analysis services:
- Genome-wide association studies (GWAS)
- Phenome-wide association studies (PheWAS)
- Chip genotyping quality control
- Online portal development to display GWAS summary statistics
Genome-wide association studies (GWAS)
A genome-wide association study (GWAS) aims to detect associations between genetic variants and diseases or traits of interest (Chang et al., 2018).
TIS will conduct GWAS on your behalf using a curated SAIGE pipeline. Deliverables include summary statistics, QQ and Manhattan plots for genotyped and imputed autosomal variants.
Phenome-wide association studies (PheWAS)
A phenome-wide association study (PheWAS) analyses many different phenotypes or traits of interest against a specific genetic variant (Diogo et al., 2018).
TIS will conduct PheWAS on your behalf using a curated REGENIE pipeline. Deliverables include Manhattan GWAS summary statistics for selected genetic variants and ~ 1200 phenotypes.
Chip genotyping quality control
TIS has partnered with the Colorado Anschutz Research Genetics Organization (CARGO) to perform quality control of chip genotyping results.
Online portal development to display GWAS summary statistics
GWAS summary statistics can be published in the form of a data portal allowing interactive exploration of results via a graphical user interface. The portal allows query of GWAS results by gene, transcript, variant and region, and provides links to major genetic databases and tools such as dbSNE, UCSC Genome Browser, gnomAD, ClinVar, and GTEx portal.
How to request Biobank genetic data analysis 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.