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12,348 results

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Page 1
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S. Khera AV, et al. Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13. Nat Genet. 2018. PMID: 30104762 Free PMC article.
Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk. Although most disease risk is polygenic in nature(2-5), it has not yet been possible to use polygenic predictors to iden …
Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk. A …
Polygenic risk scores: from research tools to clinical instruments.
Lewis CM, Vassos E. Lewis CM, et al. Genome Med. 2020 May 18;12(1):44. doi: 10.1186/s13073-020-00742-5. Genome Med. 2020. PMID: 32423490 Free PMC article. Review.
These variants can be combined into a polygenic risk score that captures part of an individual's susceptibility to diseases. Polygenic risk scores have been widely applied in research studies, confirming the association between the scores and disease s …
These variants can be combined into a polygenic risk score that captures part of an individual's susceptibility to diseases. …
Polygenic risk scores and breast cancer risk prediction.
Roberts E, Howell S, Evans DG. Roberts E, et al. Breast. 2023 Feb;67:71-77. doi: 10.1016/j.breast.2023.01.003. Epub 2023 Jan 10. Breast. 2023. PMID: 36646003 Free PMC article. Review.
Polygenic Risk Scores (PRS) are a major component of accurate breast cancer risk prediction and have the potential to improve screening and prevention strategies. ...When incorporated into risk models, the more personalised risk assessment deriv …
Polygenic Risk Scores (PRS) are a major component of accurate breast cancer risk prediction and have the potential to i …
Polygenic risk scores: how much do they add?
Christoffersen M, Tybjærg-Hansen A. Christoffersen M, et al. Curr Opin Lipidol. 2021 Jun 1;32(3):157-162. doi: 10.1097/MOL.0000000000000759. Curr Opin Lipidol. 2021. PMID: 33900274 Review.
Here we review recent developments in polygenic risk scores (PRSs) for LDL cholesterol and for CAD, and how they may add to current risk prediction algorithms. RECENT FINDINGS: PRSs can identify 10-20 times as many individuals at high polygenic risk …
Here we review recent developments in polygenic risk scores (PRSs) for LDL cholesterol and for CAD, and how they may add to cu …
The personal and clinical utility of polygenic risk scores.
Torkamani A, Wineinger NE, Topol EJ. Torkamani A, et al. Nat Rev Genet. 2018 Sep;19(9):581-590. doi: 10.1038/s41576-018-0018-x. Nat Rev Genet. 2018. PMID: 29789686 Review.
Nevertheless, recent efforts have begun to demonstrate the utility of polygenic risk profiling to identify groups of individuals who could benefit from the knowledge of their probabilistic susceptibility to disease. In this context, we review the evidence supporting …
Nevertheless, recent efforts have begun to demonstrate the utility of polygenic risk profiling to identify groups of individua …
Polygenic Risk Scores Driving Clinical Change in Glaucoma.
Kolovos A, Hassall MM, Siggs OM, Souzeau E, Craig JE. Kolovos A, et al. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):287-308. doi: 10.1146/annurev-genom-121222-105817. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38599222 Free article. Review.
The high heritability of glaucoma makes it an ideal substrate for genetic risk prediction, with the bulk of risk being polygenic in nature. Here, we summarize the foundations of glaucoma genetic risk, the development of polygenic risk pre …
The high heritability of glaucoma makes it an ideal substrate for genetic risk prediction, with the bulk of risk being poly …
Polygenic Risk Scores and Genetically Complex Eye Disease.
Le NQ, He W, MacGregor S. Le NQ, et al. Annu Rev Vis Sci. 2024 Sep;10(1):403-423. doi: 10.1146/annurev-vision-102122-103958. Epub 2024 Sep 2. Annu Rev Vis Sci. 2024. PMID: 38648289 Free article. Review.
The success of genome-wide association studies (GWASs) in uncovering genetic variants associated with complex eye diseases has paved the way for the development of risk prediction approaches based on disease genetics. Derived from GWAS data, polygenic risk sc …
The success of genome-wide association studies (GWASs) in uncovering genetic variants associated with complex eye diseases has paved the way …
Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation.
Ortega HI, Udler MS, Gloyn AL, Sharp SA. Ortega HI, et al. Nat Rev Endocrinol. 2025 Sep;21(9):530-545. doi: 10.1038/s41574-025-01132-w. Epub 2025 Jun 4. Nat Rev Endocrinol. 2025. PMID: 40467969 Free PMC article. Review.
Over the previous decade, polygenic risk scores (PRS) derived from large genome-wide association studies have become broadly recognized for their potential in precision medicine. PRS, and now partitioned polygenic scores generated by clustering of risk …
Over the previous decade, polygenic risk scores (PRS) derived from large genome-wide association studies have become broadly r …
Polygenic risk scores for the diagnosis and management of dyslipidemia.
Brunham LR, Trinder M. Brunham LR, et al. Curr Opin Endocrinol Diabetes Obes. 2022 Apr 1;29(2):95-100. doi: 10.1097/MED.0000000000000708. Curr Opin Endocrinol Diabetes Obes. 2022. PMID: 35034034 Review.
PURPOSE OF REVIEW: To review current progress in the use of polygenic risk scores for lipid traits and their use in the diagnosis and treatment of lipid disorders. RECENT FINDINGS: Inherited lipid disorders, including those causing extremes of low-density lipoprotei …
PURPOSE OF REVIEW: To review current progress in the use of polygenic risk scores for lipid traits and their use in the diagno …
Polygenic risk scores.
Brown MA. Brown MA. Semin Arthritis Rheum. 2024 Feb;64S:152330. doi: 10.1016/j.semarthrit.2023.152330. Epub 2023 Nov 22. Semin Arthritis Rheum. 2024. PMID: 38042619
Polygenic risk scores (PRS) estimate an individual's genetic risk for a disease or trait compared to a matched population. ...
Polygenic risk scores (PRS) estimate an individual's genetic risk for a disease or trait compared to a matched populati …
12,348 results
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