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 …
Polygenic scores and their applications in kidney disease
Genome-wide association studies (GWAS) have uncovered thousands of risk variants that
individually have small effects on the risk of human diseases, including chronic kidney …
individually have small effects on the risk of human diseases, including chronic kidney …
An ensemble penalized regression method for multi-ancestry polygenic risk prediction
Great efforts are being made to develop advanced polygenic risk scores (PRS) to improve
the prediction of complex traits and diseases. However, most existing PRS are primarily …
the prediction of complex traits and diseases. However, most existing PRS are primarily …
MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups
Polygenic risk scores (PRSs) are now showing promising predictive performance on a wide
variety of complex traits and diseases, but there exists a substantial performance gap across …
variety of complex traits and diseases, but there exists a substantial performance gap across …
[PDF][PDF] Admix-kit: an integrated toolkit and pipeline for genetic analyses of admixed populations
Admixed populations, with their unique and diverse genetic backgrounds, are often
underrepresented in genetic studies. This oversight not only limits our understanding but …
underrepresented in genetic studies. This oversight not only limits our understanding but …
Gene expression and splicing QTL analysis of blood cells in African American participants from the Jackson Heart Study
Most gene expression and alternative splicing quantitative trait loci (eQTL/sQTL) studies
have been biased toward European ancestry individuals. Here, we performed eQTL and …
have been biased toward European ancestry individuals. Here, we performed eQTL and …
Implementing reporting standards for polygenic risk scores for atherosclerotic cardiovascular disease
Abstract Purpose of Review There is considerable interest in using polygenic risk scores
(PRSs) for assessing risk of atherosclerotic cardiovascular disease (ASCVD). A barrier to the …
(PRSs) for assessing risk of atherosclerotic cardiovascular disease (ASCVD). A barrier to the …
Single locus theory of admixture is insufficient for the study of complex traits in admixed populations
Admixed populations offer valuable insights into the genetic architecture of complex traits.
Such an investigation demands a delicate theory that can handle the linkage disequilibrium …
Such an investigation demands a delicate theory that can handle the linkage disequilibrium …
[HTML][HTML] Cell-type specific inference from bulk RNA-sequencing data by integrating single cell reference profiles via EPIC-unmix
C Tang, Q Sun, X Zeng, X Yang, F Liu, J Zhao, Y Shen… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Cell type specific (CTS) analysis is essential to reveal biological insights obscured in bulk
tissue data. However, single-cell (sc) or single-nuclei (sn) resolution data are still cost …
tissue data. However, single-cell (sc) or single-nuclei (sn) resolution data are still cost …
Retracing Human Genetic Histories and Natural Selection Using Precise Local Ancestry Inference
J Lerga-Jaso, B Novković, D Unnikrishnan… - bioRxiv, 2023 - biorxiv.org
In an increasingly diverse world, including admixed individuals in genomic studies is
imperative for equity and portability. A crucial first step is precise local ancestry inference …
imperative for equity and portability. A crucial first step is precise local ancestry inference …