CINECA Development and application of optimised polygenic risk scores D4.3

WP4 of the CINECA project aims to create a comprehensive set of pipelines and tools that can facilitate federated analysis of large scale genomic data cohorts. The aim being that these would then require minimal efforts or changes in DevOps to deploy and run in multiple different compute environments. This federated model would not require download of the genetic data, the analyses are brought to the data, rather than the more traditional method of bringing the data to the analysis, thus ensuring privacy and control of the data are retained as required by GDPR.

Polygenic risk scores (PRS) are an aggregate of an individual’s risk score for a given trait or disease/condition, and are computed from the number of alleles carried by the individual which are associated to the trait in question to be explored. In this deliverable WP4 has worked in a PRS use case that aims to build a data processing pipeline for the data analysis of genotype data for the computation of polygenic risk scores in a federated manner.