A statistical review of polygenic risk scores: from heuristics to model-based inference.

Abstract excerpt

Polygenic risk scores (PRS) were initially developed as pragmatic tools to aggregate genome-wide association study (GWAS) signals for individual-level prediction, relying on heuristic strategies such as clumping and thresholding to approximate independence among variants. Although computationally efficient and widely accessible, these early approaches were sensitive to tuning parameters and limited in their...

Topics

• Genetic Risk Score
• Multifactorial Inheritance
• Humans
• Genome-Wide Association Study
• Bayes Theorem
• Linkage Disequilibrium