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 …

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 …

LDpred2: better, faster, stronger

F Privé, J Arbel, BJ Vilhjálmsson - Bioinformatics, 2020 - academic.oup.com
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 …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
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 …

The current status of risk-stratified breast screening

AK Clift, D Dodwell, S Lord, S Petrou, SM Brady… - British journal of …, 2022 - nature.com
Apart from high-risk scenarios such as the presence of highly penetrant genetic mutations,
breast screening typically comprises mammography or tomosynthesis strategies defined by …

The OncoArray Consortium: a network for understanding the genetic architecture of common cancers

CI Amos, J Dennis, Z Wang, J Byun… - … , biomarkers & prevention, 2017 - AACR
Background: Common cancers develop through a multistep process often including
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

N Pashayan, S Morris, FJ Gilbert, PDP Pharoah - JAMA oncology, 2018 - jamanetwork.com
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 …

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 alters the penetrance of monogenic kidney disease

A Khan, N Shang, JG Nestor, C Weng… - Nature …, 2023 - nature.com
Chronic kidney disease (CKD) is determined by an interplay of monogenic, polygenic, and
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

TM Seibert, CC Fan, Y Wang, V Zuber, R Karunamuni… - bmj, 2018 - bmj.com
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 …