Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
Towards clinical utility of polygenic risk scores
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …
management. Risk prediction typically includes risk factors such as age, sex, family history of …
A new method for multiancestry polygenic prediction improves performance across diverse populations
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …
performance in non-European populations raise concerns about clinical applications and …
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
A key public health need is to identify individuals at high risk for a given disease to enable
enhanced screening or preventive therapies. Because most common diseases have a …
enhanced screening or preventive therapies. Because most common diseases have a …
Improving reporting standards for polygenic scores in risk prediction studies
H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …
studies, can bridge the gap between initial discovery efforts and clinical applications for the …
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 …
promised to rapidly transform personalized medicine with individualized disease risk …
[HTML][HTML] Polygenic prediction of weight and obesity trajectories from birth to adulthood
Severe obesity is a rapidly growing global health threat. Although often attributed to
unhealthy lifestyle choices or environmental factors, obesity is known to be heritable and …
unhealthy lifestyle choices or environmental factors, obesity is known to be heritable and …
Machine learning for integrating data in biology and medicine: Principles, practice, and opportunities
New technologies have enabled the investigation of biology and human health at an
unprecedented scale and in multiple dimensions. These dimensions include a myriad of …
unprecedented scale and in multiple dimensions. These dimensions include a myriad of …
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements
Poor trans-ancestry portability of polygenic risk scores is a consequence of Eurocentric
genetic studies and limited knowledge of shared causal variants. Leveraging regulatory …
genetic studies and limited knowledge of shared causal variants. Leveraging regulatory …
Integrative approaches for large-scale transcriptome-wide association studies
Many genetic variants influence complex traits by modulating gene expression, thus altering
the abundance of one or multiple proteins. Here we introduce a powerful strategy that …
the abundance of one or multiple proteins. Here we introduce a powerful strategy that …