Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
Genetic prediction of complex traits with polygenic scores: a statistical review
Accurate genetic prediction of complex traits can facilitate disease screening, improve early
intervention, and aid in the development of personalized medicine. Genetic prediction of …
intervention, and aid in the development of personalized medicine. Genetic prediction of …
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …
health disparities. We propose PolyPred, a method that improves cross-population …
Improving polygenic prediction in ancestrally diverse populations
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …
existing genome-wide association studies (GWAS) have been conducted predominantly in …
[PDF][PDF] Making the most of clumping and thresholding for polygenic scores
Polygenic prediction has the potential to contribute to precision medicine. Clumping and
thresholding (C+ T) is a widely used method to derive polygenic scores. When using C+ T …
thresholding (C+ T) is a widely used method to derive polygenic scores. When using C+ T …
[HTML][HTML] Significant sparse polygenic risk scores across 813 traits in UK Biobank
We present a systematic assessment of polygenic risk score (PRS) prediction across more
than 1,500 traits using genetic and phenotype data in the UK Biobank. We report 813 sparse …
than 1,500 traits using genetic and phenotype data in the UK Biobank. We report 813 sparse …
[HTML][HTML] Population-specific causal disease effect sizes in functionally important regions impacted by selection
Many diseases exhibit population-specific causal effect sizes with trans-ethnic genetic
correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We …
correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We …
[PDF][PDF] Accurate and scalable construction of polygenic scores in large biobank data sets
Accurate construction of polygenic scores (PGS) can enable early diagnosis of diseases and
facilitate the development of personalized medicine. Accurate PGS construction requires …
facilitate the development of personalized medicine. Accurate PGS construction requires …
Validity of polygenic risk scores: are we measuring what we think we are?
ACJW Janssens - Human molecular genetics, 2019 - academic.oup.com
Polygenic risk scores (PRSs) have become the standard for quantifying genetic liability in
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …
[HTML][HTML] Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder
Biobanks often contain several phenotypes relevant to diseases such as major depressive
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …