BACKGROUND: Polygenic risk scores (PRS) are linear combinations of genetic markers weighted by effect size that are commonly used to predict disease risk. For complex heritable diseases such as late-onset Alzheimer's disease (LOAD), PRS models fail t...
We construct non-linear machine learning (ML) prediction models for systolic and diastolic blood pressure (SBP, DBP) using demographic and clinical variables and polygenic risk scores (PRSs). We developed a two-model ensemble, consisting of a baselin...
In recent years, the utility of polygenic risk scores (PRS) in forecasting disease susceptibility from genome-wide association studies (GWAS) results has been widely recognised. Yet, these models face limitations due to overfitting and the potential ...
PURPOSE: Age-related macular degeneration (AMD) is a complex eye disorder affecting millions worldwide. This article uses deep learning techniques to investigate the relationship between AMD, genetics and optical coherence tomography (OCT) scans.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
38477741
This study aimed to enhance the fracture risk prediction accuracy in major osteoporotic fractures (MOFs) and hip fractures (HFs) by integrating genetic profiles, machine learning (ML) techniques, and Bayesian optimization. The genetic risk score (GRS...
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
39632152
BACKGROUND: Predicting the risk of developing pancreatic ductal adenocarcinoma (PDAC) is of paramount importance, given its high mortality rate. Current PDAC risk prediction models rely on a limited number of variables, do not include genetics, and h...
BACKGROUND: In recent years, developments have been made in various research domains, from treatments with (es)ketamine to large-scale genome-wide association studies (GWAS).
SUMMARY: Polygenic risk scores (PRSs) hold promise for early disease diagnosis and personalized treatment, but their overall discriminative power remains limited for many diseases in the general population. As a result, numerous novel PRS modeling te...
Prevention science : the official journal of the Society for Prevention Research
39913075
Due to ethnic heterogeneity in genetic architecture, genetic risk score (GRS) constructed within the European population generally possesses poor portability in underrepresented non-European populations, but substantial genetic similarity exists acro...
. Polygenic risk scores (PRS) summarise genetic information into a single number with clinical and research uses. Deep learning (DL) has revolutionised multiple fields, however, the impact of DL on PRSs has been less significant. We explore how DL ca...