Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association

JW O'Sullivan, S Raghavan, C Marquez-Luna… - Circulation, 2022 - Am Heart Assoc
Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …

The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

Developing and evaluating polygenic risk prediction models for stratified disease prevention

N Chatterjee, J Shi, M García-Closas - Nature Reviews Genetics, 2016 - nature.com
Abstract Knowledge of genetics and its implications for human health is rapidly evolving in
accordance with recent events, such as discoveries of large numbers of disease …

Signatures of negative selection in the genetic architecture of human complex traits

J Zeng, R De Vlaming, Y Wu, MR Robinson… - Nature …, 2018 - nature.com
We develop a Bayesian mixed linear model that simultaneously estimates single-nucleotide
polymorphism (SNP)-based heritability, polygenicity (proportion of SNPs with nonzero …

Reevaluation of SNP heritability in complex human traits

D Speed, N Cai, Ucleb Consortium, MR Johnson… - Nature …, 2017 - nature.com
SNP heritability, the proportion of phenotypic variance explained by SNPs, has been
reported for many hundreds of traits. Its estimation requires strong prior assumptions about …

[PDF][PDF] Contrasting the genetic architecture of 30 complex traits from summary association data

H Shi, G Kichaev, B Pasaniuc - The American Journal of Human Genetics, 2016 - cell.com
Variance-component methods that estimate the aggregate contribution of large sets of
variants to the heritability of complex traits have yielded important insights into the genetic …

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

LM Evans, R Tahmasbi, SI Vrieze, GR Abecasis… - Nature …, 2018 - nature.com
Multiple methods have been developed to estimate narrow-sense heritability, h 2, using
single nucleotide polymorphisms (SNPs) in unrelated individuals. However, a …

[PDF][PDF] Extreme polygenicity of complex traits is explained by negative selection

LJ O'Connor, AP Schoech, F Hormozdiari… - The American Journal of …, 2019 - cell.com
Complex traits and common diseases are extremely polygenic, their heritability spread
across thousands of loci. One possible explanation is that thousands of genes and loci have …

Multiethnic polygenic risk scores improve risk prediction in diverse populations

C Márquez‐Luna, PR Loh… - Genetic …, 2017 - Wiley Online Library
Methods for genetic risk prediction have been widely investigated in recent years. However,
most available training data involves European samples, and it is currently unclear how to …

[HTML][HTML] Population-specific causal disease effect sizes in functionally important regions impacted by selection

H Shi, S Gazal, M Kanai, EM Koch, AP Schoech… - Nature …, 2021 - nature.com
Many diseases exhibit population-specific causal effect sizes with trans-ethnic genetic
correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We …