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 …

[PDF][PDF] Clinical validation, implementation, and reporting of polygenic risk scores for common diseases

J Vassy, L Hao, P Kraft, G Berriz, E Hynes, C Koch… - 2021 - pdfs.semanticscholar.org
Implementation of polygenic risk scores (PRS) may improve disease prevention and
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 …

The clinical use of polygenic risk scores.

T Terkelsen, TF Hansen, MK Herlin, M Djursby… - Ugeskrift for …, 2023 - europepmc.org
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 …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
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 …

[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 …

[HTML][HTML] Generalisation of genomic findings and applications of polygenic risk scores

M Corpas, S Fatumo - BMC Medical Genomics, 2023 - Springer
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 …

[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 …

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 …

[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 …

HV Reddi, H Wand, B Funke, MT Zimmermann… - Genetics in …, 2023 - Elsevier
Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …