CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

Brief Overview of Pilot Project:
We have been approved by leadership of the International HundredK+ Cohorts Consortium (IHCC) to go ahead with a polygenic risk score (PRS) pilot project involving several phenotypes that are relatively commonly recorded across the consortium, namely: Asthma, Blood Pressure, BMI, Height, Type-1 Diabetes, and Type-2 Diabetes. Additionally, for sites that can make them available, we have identified two covariates - Smoking and Geocodes.

We intend to present preliminary results at the 3rd International Cohorts Summit in Santiago on May 4-5, 2020, and a small stipend will be available to participating sites. Sites will run relevant analyses locally, and share summary data with the central analysis team. The requirement for taking part is that genotyping data and at least one of the phenotypes listed above be available immediately. If you have questions, please feel free to get in touch with This email address is being protected from spambots. You need JavaScript enabled to view it..

Notes, Phenotype Definitions, and FAQs (open to ANYONE for comment/edit):
A Google Doc has been compiled to collate notes, definitions, and FAQs - feel free to check them out.

Site Survey:
Participating sites are requested to complete a brief survey. Please click here to complete.

LDpred is a Python-based software package that adjusts GWAS summary statistics for the effects of linkage disequilibrium (LD). To help with implementation, we have prepared set-up instructions and provided a link to the original publication.

Statement of Work:
We have sent the IHCC Coordinating Center a draft Statement of Work. We will circulate a final version as soon as we have it. Again, if you have comments, again please feel free This email address is being protected from spambots. You need JavaScript enabled to view it..

Presentation Slides:
An updated version of the slides presented at the PRS call on Wednesday Feb 12th can be viewed as a pdf.