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BIOMARKER-BASED POLYGENIC RISK SCORE FOR GEMMA GENOMES

TOOL TYPE

Data analysis, Script

TARGET USERS

Science & research

LEAD PARTNER

Tampere University, CNR-ITB

COMPLETENESS

90%
(delivery DEC 2025)

BIOMARKER-BASED POLYGENIC RISK SCORE FOR GEMMA GENOMES

We developed a computational pipeline with accompanying scripts for the construction of biomarker informed polygenic risk scores (bioPRS) using genotypes called from GEMMA WGS. Standard PRS variants and effects are collected from Grove et al. 2019 study. SFARI gene and gut brain axis associated adjusted PRS scores are constructed and tested. In addition, microbiome exposures, selected from machine learning, are also integrated. While current PRS scores are not statistically significant based on logistic regression, the pathway based scores and microbiome integrated models are promising. We anticipate releasing the full pipeline and their results together with the anticipated main GEMMA paper.
INSTRUCTIONS

The scripts are used in R, using the RStudio interface as well as shell scripting appropriate for Linux terminal. Data will be released together with the main GEMMA publication.

Additional instructions: 

https://github.com/jakelin212/GEMMA_bioPRS/blob/main/README.md

CONTACT

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