The personal and clinical utility of polygenic risk scores
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 …
Epidemiology and risk-stratification of NAFLD-associated HCC
GN Ioannou - Journal of hepatology, 2021 - Elsevier
Non-alcoholic fatty liver disease (NAFLD) is projected to become the leading cause of
hepatocellular carcinoma (HCC) in many countries. Many risk factors for NAFLD are also …
hepatocellular carcinoma (HCC) in many countries. Many risk factors for NAFLD are also …
LDpred2: better, faster, stronger
Motivation Polygenic scores have become a central tool in human genetics research.
LDpred is a popular method for deriving polygenic scores based on summary statistics and …
LDpred is a popular method for deriving polygenic scores based on summary statistics and …
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 …
The current status of risk-stratified breast screening
Apart from high-risk scenarios such as the presence of highly penetrant genetic mutations,
breast screening typically comprises mammography or tomosynthesis strategies defined by …
breast screening typically comprises mammography or tomosynthesis strategies defined by …
The OncoArray Consortium: a network for understanding the genetic architecture of common cancers
Background: Common cancers develop through a multistep process often including
inherited susceptibility. Collaboration among multiple institutions, and funding from multiple …
inherited susceptibility. Collaboration among multiple institutions, and funding from multiple …
Cost-effectiveness and benefit-to-harm ratio of risk-stratified screening for breast cancer: a life-table model
Importance The age-based or “one-size-fits-all” breast screening approach does not take
into account the individual variation in risk. Mammography screening reduces death from …
into account the individual variation in risk. Mammography screening reduces death from …
Utility of polygenic risk scores in UK cancer screening: a modelling analysis
C Huntley, B Torr, A Sud, CF Rowlands, R Way… - The Lancet …, 2023 - thelancet.com
Background It is proposed that, through restriction to individuals delineated as high risk,
polygenic risk scores (PRSs) might enable more efficient targeting of existing cancer …
polygenic risk scores (PRSs) might enable more efficient targeting of existing cancer …
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 …
[HTML][HTML] Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts
Objectives To develop and validate a genetic tool to predict age of onset of aggressive
prostate cancer (PCa) and to guide decisions of who to screen and at what age. Design …
prostate cancer (PCa) and to guide decisions of who to screen and at what age. Design …