首页|Multi-ancestry polygenic risk scores using phylogenetic regularization
Multi-ancestry polygenic risk scores using phylogenetic regularization
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According to news reporting based on a preprint abstract, our journalists obtained the following quote sourced from biorxiv.org: “Accurately predicting phenotype using genotype across diverse ancestry groups remains a significant challenge in human genetics. Many state-of-the-art polygenic risk score models are known to have difficulty generalizing to genetic ancestries that are not well represented in their training set. “To address this issue, we present a novel machine learning method for fitting genetic effect sizes across multiple ancestry groups simultaneously, while leveraging prior knowledge of the evolutionary relationships among them. “We introduce DendroPRS, a machine learning model where SNP effect sizes are allowed to evolve along the branches of the phylogenetic tree capturing the relationship among populations. DendroPRS outperforms existing approaches at two important genotype-to-phenotype prediction tasks: expression QTL analysis and polygenic risk scores.