Assessing the Current Clinical Utility of Polygenic Risk Scores
P Ramos - 2023 - academic.oup.com
Genetic testing has been extensively used to detect monogenic diseases such as cystic
fibrosis and Huntington disease. Illnesses with complex etiologies involving interactions …
fibrosis and Huntington disease. Illnesses with complex etiologies involving interactions …
[PDF][PDF] Clinical validation, implementation, and reporting of polygenic risk scores for common diseases
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but requires the construction and validation of clinical assays, interpretation …
management but requires the construction and validation of clinical assays, interpretation …
[HTML][HTML] Clinical utility of polygenic risk scores: a critical 2023 appraisal
S Koch, J Schmidtke, M Krawczak… - Journal of Community …, 2023 - Springer
Since their first appearance in the context of schizophrenia and bipolar disorder in 2009,
polygenic risk scores (PRSs) have been described for a large number of common complex …
polygenic risk scores (PRSs) have been described for a large number of common complex …
The clinical use of polygenic risk scores.
Polygenic risk scores (PRS) identify at-risk individuals for many common diseases. A
discussion of strengths and limitations is carried out in this review. PRS complement …
discussion of strengths and limitations is carried out in this review. PRS complement …
Towards clinical utility of polygenic risk scores
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …
management. Risk prediction typically includes risk factors such as age, sex, family history of …
[HTML][HTML] The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
A Abu-El-Haija, HV Reddi, H Wand, NC Rose… - Genetics in …, 2023 - Elsevier
Polygenic inheritance is a non-Mendelian form of inheritance in which the risk of a trait,
disorder, or disease results from the combined contribution of variants from multiple genes …
disorder, or disease results from the combined contribution of variants from multiple genes …
[HTML][HTML] Generalisation of genomic findings and applications of polygenic risk scores
Abstract Polygenic Risk Scores (PRS)(also known as polygenic scores, genetic risk scores
or polygenic indexes) capture genetic contributions of a multitude of markers that …
or polygenic indexes) capture genetic contributions of a multitude of markers that …
[HTML][HTML] Implementation of individualised polygenic risk score analysis: a test case of a family of four
M Corpas, K Megy, A Metastasio, E Lehmann - BMC Medical Genomics, 2022 - Springer
Background Polygenic risk scores (PRS) have been widely applied in research studies,
showing how population groups can be stratified into risk categories for many common …
showing how population groups can be stratified into risk categories for many common …
Validity of polygenic risk scores: are we measuring what we think we are?
ACJW Janssens - Human molecular genetics, 2019 - academic.oup.com
Polygenic risk scores (PRSs) have become the standard for quantifying genetic liability in
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …
[HTML][HTML] Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics …
Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …