[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 …
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 …
Tutorial: a guide to performing polygenic risk score analyses
SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …
genetic liability to a trait or disease, calculated according to their genotype profile and …
The emerging field of polygenic risk scores and perspective for use in clinical care
Genetic testing is used widely for diagnostic, carrier and predictive testing in monogenic
diseases. Until recently, there were no genetic testing options available for multifactorial …
diseases. Until recently, there were no genetic testing options available for multifactorial …
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 …
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 …
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 …
Polygenic scores in biomedical research
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …
have the potential to advance human health worldwide. However, their success depends on …
Genetic risk scores
RP Igo Jr, TG Kinzy… - Current protocols in …, 2019 - Wiley Online Library
Genome‐wide variation data with millions of genetic markers have become commonplace.
However, the potential for interpretation and application of these data for clinical assessment …
However, the potential for interpretation and application of these data for clinical assessment …
[PDF][PDF] Addressing the challenges of polygenic scores in human genetic research
The genotyping of millions of human samples has made it possible to evaluate variants
across the human genome for their possible association with risks for numerous diseases …
across the human genome for their possible association with risks for numerous diseases …
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