Pitfalls of predicting complex traits from SNPs

NR Wray, J Yang, BJ Hayes, AL Price… - Nature Reviews …, 2013 - nature.com
The success of genome-wide association studies (GWASs) has led to increasing interest in
making predictions of complex trait phenotypes, including disease, from genotype data …

Risk determination and prevention of breast cancer

A Howell, AS Anderson, RB Clarke, SW Duffy… - Breast Cancer …, 2014 - Springer
Breast cancer is an increasing public health problem. Substantial advances have been
made in the treatment of breast cancer, but the introduction of methods to predict women at …

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

AC Fahed, M Wang, JR Homburger, AP Patel… - Nature …, 2020 - nature.com
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

AV Khera, M Chaffin, KG Aragam, ME Haas, C Roselli… - Nature …, 2018 - nature.com
A key public health need is to identify individuals at high risk for a given disease to enable
enhanced screening or preventive therapies. Because most common diseases have a …

[HTML][HTML] Polygenic prediction of weight and obesity trajectories from birth to adulthood

AV Khera, M Chaffin, KH Wade, S Zahid, J Brancale… - Cell, 2019 - cell.com
Severe obesity is a rapidly growing global health threat. Although often attributed to
unhealthy lifestyle choices or environmental factors, obesity is known to be heritable and …

Variable prediction accuracy of polygenic scores within an ancestry group

H Mostafavi, A Harpak, I Agarwal, D Conley… - elife, 2020 - elifesciences.org
Fields as diverse as human genetics and sociology are increasingly using polygenic scores
based on genome-wide association studies (GWAS) for phenotypic prediction. However …

[HTML][HTML] Human demographic history impacts genetic risk prediction across diverse populations

AR Martin, CR Gignoux, RK Walters, GL Wojcik… - The American Journal of …, 2017 - cell.com
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …

Modeling linkage disequilibrium increases accuracy of polygenic risk scores

BJ Vilhjálmsson, J Yang, HK Finucane, A Gusev… - The american journal of …, 2015 - cell.com
Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …

Prediction of breast cancer risk based on profiling with common genetic variants

N Mavaddat, PDP Pharoah… - Journal of the …, 2015 - academic.oup.com
Background: Data for multiple common susceptibility alleles for breast cancer may be
combined to identify women at different levels of breast cancer risk. Such stratification could …

Power and predictive accuracy of polygenic risk scores

F Dudbridge - PLoS genetics, 2013 - journals.plos.org
Polygenic scores have recently been used to summarise genetic effects among an
ensemble of markers that do not individually achieve significance in a large-scale …