Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association
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 …
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …
[HTML][HTML] From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
[HTML][HTML] Polygenic risk scores: from research tools to clinical instruments
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …
disorders have a polygenic genetic architecture and have enabled researchers to identify …
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 …
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 …
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
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 …
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome
Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a
multitude of coding and non-coding variants. They provide an unprecedented resource for …
multitude of coding and non-coding variants. They provide an unprecedented resource for …
Clinical utility of polygenic risk scores for coronary artery disease
D Klarin, P Natarajan - Nature Reviews Cardiology, 2022 - nature.com
Over the past decade, substantial progress has been made in the discovery of alleles
contributing to the risk of coronary artery disease. In addition to providing causal insights into …
contributing to the risk of coronary artery disease. In addition to providing causal insights into …
[HTML][HTML] PRSet: Pathway-based polygenic risk score analyses and software
Polygenic risk scores (PRSs) have been among the leading advances in biomedicine in
recent years. As a proxy of genetic liability, PRSs are utilised across multiple fields and …
recent years. As a proxy of genetic liability, PRSs are utilised across multiple fields and …