Development and validation of a clinical polygenic risk score to predict breast cancer risk
E Hughes, P Tshiaba, S Gallagher, S Wagner… - JCO precision …, 2020 - ascopubs.org
PURPOSE Women with a family history of breast cancer are frequently referred for
hereditary cancer genetic testing, yet< 10% are found to have pathogenic variants in known …
hereditary cancer genetic testing, yet< 10% are found to have pathogenic variants in known …
Embracing the complexity of genomic data for personalized medicine
M West, GS Ginsburg, AT Huang, JR Nevins - Genome research, 2006 - genome.cshlp.org
Numerous recent studies have demonstrated the use of genomic data, particularly gene
expression signatures, as clinical prognostic factors in cancer and other complex diseases …
expression signatures, as clinical prognostic factors in cancer and other complex diseases …
PRSice: polygenic risk score software
A polygenic risk score (PRS) is a sum of trait-associated alleles across many genetic loci,
typically weighted by effect sizes estimated from a genome-wide association study. The …
typically weighted by effect sizes estimated from a genome-wide association study. The …
Prospects for using risk scores in polygenic medicine
Editorial summary Genome-wide association studies have made strides in identifying
common variation associated with disease. The modest effect sizes preclude risk prediction …
common variation associated with disease. The modest effect sizes preclude risk prediction …
Genomic profiles for disease risk: predictive or premature?
K Offit - Jama, 2008 - jamanetwork.com
THERE HAS BEEN A RECENT EXPLOSION OF COMMER-cial availability of genomic
“tests” for diseases, con-ditions, traits, and ancestry. Dozens of companies advertise their …
“tests” for diseases, con-ditions, traits, and ancestry. Dozens of companies advertise their …
A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels
Polygenic scores (PGSs) combine the effects of common genetic variants, to predict risk or
treatment strategies for complex diseases,,,–. Adding rare variation to PGSs has largely …
treatment strategies for complex diseases,,,–. Adding rare variation to PGSs has largely …
Statistical genetics and polygenic risk score for precision medicine
T Konuma, Y Okada - Inflammation and regeneration, 2021 - Springer
The prediction of disease risks is an essential part of personalized medicine, which includes
early disease detection, prevention, and intervention. The polygenic risk score (PRS) has …
early disease detection, prevention, and intervention. The polygenic risk score (PRS) has …
Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction
L Kachuri, RE Graff, K Smith-Byrne, TJ Meyers… - Nature …, 2020 - nature.com
Cancer risk is determined by a complex interplay of environmental and heritable factors.
Polygenic risk scores (PRS) provide a personalized genetic susceptibility profile that may be …
Polygenic risk scores (PRS) provide a personalized genetic susceptibility profile that may be …
[HTML][HTML] The illusion of polygenic disease risk prediction
NJ Wald, R Old - Genetics in Medicine, 2019 - Elsevier
A problem at the interface of genomic medicine and medical screening is that genetic
associations of etiological significance are often interpreted as having predictive …
associations of etiological significance are often interpreted as having predictive …