Calibrated prediction intervals for polygenic scores across diverse contexts
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide
range of fields. We show that PGS performance varies broadly across contexts and …
range of fields. We show that PGS performance varies broadly across contexts and …
Genetic variation across and within individuals
Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …
human traits and disease risks. Germline variants are present from conception, but they vary …
What Causes Premature Coronary Artery Disease?
A Le, H Peng, D Golinsky, M Di Scipio, R Lali… - Current Atherosclerosis …, 2024 - Springer
Abstract Purpose of Review This review provides an overview of genetic and non-genetic
causes of premature coronary artery disease (pCAD). Recent Findings pCAD refers to …
causes of premature coronary artery disease (pCAD). Recent Findings pCAD refers to …
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 …
Clinical utility of polygenic risk scores for embryo selection: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Polygenic risk score (PRS) assessment for embryo selection (hereafter referred to as
preimplantation testing for polygenic disorder [PGT-P]) is an emerging reproductive …
preimplantation testing for polygenic disorder [PGT-P]) is an emerging reproductive …
Towards personalized TSH reference ranges: A genetic and population-based approach in three independent cohorts
A Kuś, RBTM Sterenborg, EB Haug, TE Galesloot… - Thyroid, 2024 - liebertpub.com
Background: Serum thyroid-stimulating hormone (TSH) measurement is the diagnostic
cornerstone for primary thyroid dysfunction. There is high inter-individual but limited intra …
cornerstone for primary thyroid dysfunction. There is high inter-individual but limited intra …
Polygenic risk score for blood pressure and lifestyle factors with overall and CVD mortality: a prospective cohort study in a Japanese population
Although previous polygenic risk score (PRS) studies for cardiovascular disease (CVD)
focused on incidence, few studies addressed CVD mortality and quantified risks by …
focused on incidence, few studies addressed CVD mortality and quantified risks by …
Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study
Importance Primary open-angle glaucoma (POAG) is a highly heritable disease, with 127
identified risk loci to date. Polygenic risk score (PRS) may provide a clinically useful …
identified risk loci to date. Polygenic risk score (PRS) may provide a clinically useful …
Somatic and germline variants and coronary heart disease in a Chinese population
K Zhao, X Shen, H Liu, Z Lin, J Li, S Chen, F Liu… - JAMA …, 2024 - jamanetwork.com
Importance The genetic basis of coronary heart disease (CHD) has expanded from a
germline to somatic genome, including clonal hematopoiesis of indeterminate potential …
germline to somatic genome, including clonal hematopoiesis of indeterminate potential …
Clinical data mining: challenges, opportunities, and recommendations for translational applications
H Qiao, Y Chen, C Qian, Y Guo - Journal of Translational Medicine, 2024 - Springer
Clinical data mining of predictive models offers significant advantages for re-evaluating and
leveraging large amounts of complex clinical real-world data and experimental comparison …
leveraging large amounts of complex clinical real-world data and experimental comparison …