Oct 2026· Deutsches Ärzteblatt International· Vol 123 22· 0 citations
Medicine
TL;DR
The current state of bench-to-bedside translation of polygenic risk scores (PRS) is reviewed and it is shown that quality standards must be established to ensure that the potential of PRS can be effectively translated into routine clinical practice.
Twenty-five years after the draft of the human genome sequence, genomics has revolutionized many areas of biology, the diagnosis of familial and early-onset diseases, and the development of targeted therapies, particularly in oncology. Genomic knowledge has had little effect on the diagnosis and treatment of most commo...
David J. Hunter, Michael Inouye· New England Journal of Medic...· 0 citations
This review outlines four major PRS-informed design strategies: tail sampling based on PRS extremes; discordance sampling based on mismatch between phenotype and PRS-implied risk; conditional and stratified genome-wide association analyses using PRS to adjust for / partition background risk; and residual phenotype anal...
Hui-Qi Qu, H. Hakonarson· Human Genetics· 0 citations
BACKGROUND
Polygenic risk score (PRS) has the ability to stratify inherited susceptibility to cancer and, as a complement to monogenic testing, can identify individuals at increased genetic risk even when no pathogenic variant is detected in high- or moderate-penetrance genes. It reflects the combined additive effects...
Adéla Mišove, E. Macháčková, Klára Nováková et al.· Klinicka onkologie· 0 citations
Study objective Polygenic risk scores (PRS) are increasingly recognized for their potential to improve coronary artery disease (CAD) prediction beyond traditional clinical models. This study evaluated the utility of genome-wide association study (GWAS) - derived PRS and pathway-specific PRS (PS-PRS) in the Latvian popu...
E. Kanašniece, Elita Ozola, L. Bardina et al.· American Heart Journal Plus:...· 0 citations
Polygenic risk scores (PRS) have emerged as promising tools for stratifying inherited disease risk, yet their translation into clinical practice is constrained by a critical and frequently unmet requirement: demonstration that scores derived in one cohort retain discriminatory value when applied independently in a diff...
L. Bundalian, A. Velluva, E. Gjermeni et al.· medRxiv· 0 citations
IMPORTANCE
Patients diagnosed with breast cancer (BCa) are at increased risk of multiple common diseases; however, the spectrum of these diseases and the contribution of inherited genetic susceptibility remain incompletely characterized.
METHODS
We evaluated 15 common diseases and tested their associations with BCa e...
Annabelle Ashworth, Zhu-Qing Shi, Huy Tran et al.· JNCI Cancer Spectrum· 0 citations
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