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 …
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 …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
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 …
[HTML][HTML] The influence of evolutionary history on human health and disease
Nearly all genetic variants that influence disease risk have human-specific origins; however,
the systems they influence have ancient roots that often trace back to evolutionary events …
the systems they influence have ancient roots that often trace back to evolutionary events …
Genetic analyses support the contribution of mRNA N6-methyladenosine (m6A) modification to human disease heritability
Abstract N 6-methyladenosine (m6A) plays important roles in regulating messenger RNA
processing. Despite rapid progress in this field, little is known about the genetic …
processing. Despite rapid progress in this field, little is known about the genetic …
[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 …
[HTML][HTML] Multi-ancestry genome-wide association meta-analysis of Parkinson's disease
Although over 90 independent risk variants have been identified for Parkinson's disease
using genome-wide association studies, most studies have been performed in just one …
using genome-wide association studies, most studies have been performed in just one …
[HTML][HTML] Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries
Background Polygenic risk scores (PRS) are valuable to translate the results of genome-
wide association studies (GWAS) into clinical practice. To date, most GWAS have been …
wide association studies (GWAS) into clinical practice. To date, most GWAS have been …
[HTML][HTML] Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome
A Barry, MT McNulty, X Jia, Y Gupta, H Debiec… - Nature …, 2023 - nature.com
Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood
glomerular disease. Previous genome-wide association studies (GWAS) identified a risk …
glomerular disease. Previous genome-wide association studies (GWAS) identified a risk …