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DTSTAMP:20260616T140209Z
UID:b66be420-eed1-4c1f-acca-12e104abe8c1
DTSTART:20230131T090000Z
DTEND:20230131T170000Z
DESCRIPTION:Polygenic risk scores (PRS) provide an estimate of an individua
 l’s disposition to a trait or complex disease which are calculated as th
 e sum of the risk alleles weighted by the effect size estimate of the geno
 me-wide association study data on the phenotype. PRS scores help in unders
 tanding the shared aetiology  of certain traits and also in risk predict
 ion and prevention of certain diseases.    \n\nAs a part of the CINEC
 A project we have been working on the development of a demonstrator of fed
 erated genetic analyses utilising a computational pipeline for PRS analysi
 s. We have implemented this workflow using Nextflow\, a modular and reprod
 ucible workflow manager that can be deployed and autoscaled to many differ
 ent working environments including Slurm-based clusters and Kubernetes dep
 loyed using AWS amongst other computing environments. In this webinar\, we
  will provide an overview of this PRS pipeline utilising the CINECA UK1 sy
 nthetic dataset\, derived from the 1000 genomes project\, as a demonstrato
 r.  As part of the work we will further extend the demonstrator to other
  datasets and GWAS workflows\, and integrate it to be run in a federated s
 etting utilising the GA4GH guidelines on using Beacons for data discovery 
 along with AAI passports for data access authorisation and deployments. 
    \n\nThe CINECA (Common Infrastructure for National Cohorts in Europe
 \, Canada\, and Africa) project aims to develop a federated cloud enabled 
 infrastructure to make population scale genomic and biomolecular data acce
 ssible across international borders\, to accelerate research\, and improve
  the health of individuals across continents.\n\n### **About the speakers*
 *\n\n**Will Rayner** is the head of the Data and Analytics group at the In
 stitute of Translational Genomics in the Computational Health Department a
 t Helmholtz Munich. He is interested in all aspects of data management and
  data privacy and has been leading the CINECA WP4 PRS use case.\n\n**Anshi
 ka Chowdhary** is a Data informatician\, at the Institute of translational
  genomics in Helmholtz Zentrum Munich. She has been working on the develop
 ment of the workflows in WP4 of the PRS use case\, and analysis of the eQT
 L catalog on the datasets at HMGU.
LOCATION:\, 
SUMMARY:Federated analysis for polygenic risk score calculations
URL;VALUE=URI:https://www.ebi.ac.uk/training/events/federated-analysis-poly
 genic-risk-score-calculations
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