Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
Polygenic scores in biomedical research
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …
have the potential to advance human health worldwide. However, their success depends on …
Evaluation of polygenic prediction methodology within a reference-standardized framework
O Pain, KP Glanville, SP Hagenaars, S Selzam… - PLoS …, 2021 - journals.plos.org
The predictive utility of polygenic scores is increasing, and many polygenic scoring methods
are available, but it is unclear which method performs best. This study evaluates the …
are available, but it is unclear which method performs best. This study evaluates the …
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Polygenic risk scores (PRSs) have improved in predictive performance, but several
challenges remain to be addressed before PRSs can be implemented in the clinic, including …
challenges remain to be addressed before PRSs can be implemented in the clinic, including …
[HTML][HTML] Systematic review: how the attention-deficit/hyperactivity disorder polygenic risk score adds to our understanding of ADHD and associated traits
A Ronald, N de Bode, TJC Polderman - … of the American Academy of Child …, 2021 - Elsevier
Objective To investigate, by systematically reviewing the literature, whether the attention-
deficit/hyperactivity disorder (ADHD) polygenic risk score (PRS) associates with ADHD and …
deficit/hyperactivity disorder (ADHD) polygenic risk score (PRS) associates with ADHD and …
A comparison of genotyping arrays
JAM Verlouw, E Clemens, JH de Vries, O Zolk… - European Journal of …, 2021 - nature.com
Array technology to genotype single-nucleotide variants (SNVs) is widely used in genome-
wide association studies (GWAS), clinical diagnostics, and linkage studies. Arrays have …
wide association studies (GWAS), clinical diagnostics, and linkage studies. Arrays have …
Polygenic risk scores: An overview from bench to bedside for personalised medicine
B Cross, R Turner, M Pirmohamed - Frontiers in Genetics, 2022 - frontiersin.org
Since the first polygenic risk score (PRS) in 2007, research in this area has progressed
significantly. The increasing number of SNPs that have been identified by large scale GWAS …
significantly. The increasing number of SNPs that have been identified by large scale GWAS …
Design and user experience testing of a polygenic score report: a qualitative study of prospective users
Background Polygenic scores—which quantify inherited risk by integrating information from
many common sites of DNA variation—may enable a tailored approach to clinical medicine …
many common sites of DNA variation—may enable a tailored approach to clinical medicine …
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?
We sought to explore individuals' motivations for using their direct-to-consumer genetic
testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool …
testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool …
Revisiting informed consent in forensic genomics in light of current technologies and the times
B Budowle, A Sajantila - International Journal of Legal Medicine, 2023 - Springer
Informed consent is based on basic ethical principles that should be considered when
conducting biomedical and behavioral research involving human subjects. These principles …
conducting biomedical and behavioral research involving human subjects. These principles …