15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
Advances and applications of polygenic scores for coronary artery disease
Polygenic scores quantify inherited risk by integrating information from many common sites
of DNA variation into a single number. Rapid increases in the scale of genetic association …
of DNA variation into a single number. Rapid increases in the scale of genetic association …
A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …
onset—remains an important public health need. Prior studies have developed genome …
Calibrated prediction intervals for polygenic scores across diverse contexts
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide
range of fields. We show that PGS performance varies broadly across contexts and …
range of fields. We show that PGS performance varies broadly across contexts and …
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 …
Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization
ACF Lewis, EF Perez, AER Prince, HR Flaxman… - Genome Medicine, 2022 - Springer
Background Polygenic risk scores (PRS), which offer information about genomic risk for
common diseases, have been proposed for clinical implementation. The ways in which PRS …
common diseases, have been proposed for clinical implementation. The ways in which PRS …
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 …
Polygenic scores in cancer
Since the publication of the first genome-wide association study for cancer in 2007,
thousands of common alleles that are associated with the risk of cancer have been …
thousands of common alleles that are associated with the risk of cancer have been …
Recent advances in polygenic scores: translation, equitability, methods and FAIR tools
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic
predisposition to disease, and many potentially clinically useful applications have been …
predisposition to disease, and many potentially clinically useful applications have been …
Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments
Clinical implementation of new prediction models requires evaluation of their utility in a
broad range of intended use populations. Here we develop and validate ancestry-specific …
broad range of intended use populations. Here we develop and validate ancestry-specific …