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 …
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 …
[HTML][HTML] Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
Genome-wide polygenic score to predict chronic kidney disease across ancestries
Chronic kidney disease (CKD) is a common complex condition associated with high
morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; …
morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; …
Genetics of 35 blood and urine biomarkers in the UK Biobank
Clinical laboratory tests are a critical component of the continuum of care. We evaluate the
genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n …
genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n …
[HTML][HTML] Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations
T Ge, MR Irvin, A Patki, V Srinivasasainagendra… - Genome Medicine, 2022 - Springer
Abstract Background Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic
and environmental risk factors that disproportionately afflicts communities of color …
and environmental risk factors that disproportionately afflicts communities of color …
[HTML][HTML] Genome-wide risk prediction of common diseases across ancestries in one million people
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
[HTML][HTML] Prediction of type 2 diabetes using genome-wide polygenic risk score and metabolic profiles: a machine learning analysis of population-based 10-year …
Background Previous work on predicting type 2 diabetes by integrating clinical and genetic
factors has mostly focused on the Western population. In this study, we use genome-wide …
factors has mostly focused on the Western population. In this study, we use genome-wide …
Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification
Although the cohort-level accuracy of polygenic risk scores (PRSs)—estimates of genetic
value at the individual level—has been widely assessed, uncertainty in PRSs remains …
value at the individual level—has been widely assessed, uncertainty in PRSs remains …
[HTML][HTML] Polygenic risk alters the penetrance of monogenic kidney disease
Chronic kidney disease (CKD) is determined by an interplay of monogenic, polygenic, and
environmental risks. Autosomal dominant polycystic kidney disease (ADPKD) and COL4A …
environmental risks. Autosomal dominant polycystic kidney disease (ADPKD) and COL4A …