Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
The complex genetic architecture of Alzheimer's disease: novel insights and future directions
SJ Andrews, AE Renton, B Fulton-Howard… - …, 2023 - thelancet.com
Background Alzheimer's disease (AD) is a complex multifactorial neurodegenerative
disorder and the most common form of dementia. AD is highly heritable, with heritability …
disorder and the most common form of dementia. AD is highly heritable, with heritability …
A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …
onset—remains an important public health need. Prior studies have developed genome …
Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments
Clinical implementation of new prediction models requires evaluation of their utility in a
broad range of intended use populations. Here we develop and validate ancestry-specific …
broad range of intended use populations. Here we develop and validate ancestry-specific …
[HTML][HTML] Systematic comparison of family history and polygenic risk across 24 common diseases
N Mars, JV Lindbohm, P della Briotta Parolo… - The American Journal of …, 2022 - cell.com
Family history is the standard indirect measure of inherited susceptibility in clinical care,
whereas polygenic risk scores (PRSs) have more recently demonstrated potential for more …
whereas polygenic risk scores (PRSs) have more recently demonstrated potential for more …
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
Polygenic scores (PGSs) offer the ability to predict genetic risk for complex diseases across
the life course; a key benefit over short-term prediction models. To produce risk estimates …
the life course; a key benefit over short-term prediction models. To produce risk estimates …
Comprehensive inherited risk estimation for risk-based breast cancer screening in women
N Mars, S Kerminen, M Tamlander… - Journal of Clinical …, 2024 - ascopubs.org
PURPOSE Family history (FH) and pathogenic variants (PVs) are used for guiding risk
surveillance in selected high-risk women but little is known about their impact for breast …
surveillance in selected high-risk women but little is known about their impact for breast …
Integration of biomarker polygenic risk score improves prediction of coronary heart disease
There are several established biomarkers for coronary heart disease (CHD), including blood
pressure, cholesterol, and lipoproteins. It is of high interest to determine how a combined …
pressure, cholesterol, and lipoproteins. It is of high interest to determine how a combined …
Genome-wide polygenic risk score for major osteoporotic fractures in postmenopausal women using associated single nucleotide polymorphisms
Background Osteoporosis is highly polygenic and heritable, with heritability ranging from 50
to 80%; most inherited susceptibility is associated with the cumulative effect of many …
to 80%; most inherited susceptibility is associated with the cumulative effect of many …
Genomic innovation in early life cardiovascular disease prevention and treatment
Cardiovascular disease (CVD) is a leading cause of morbidity and mortality globally.
Although CVD events do not typically manifest until older adulthood, CVD develops …
Although CVD events do not typically manifest until older adulthood, CVD develops …