Journal article

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

Minta Thomas, Lori C Sakoda, Michael Hoffmeister, Elisabeth A Rosenthal, Jeffrey K Lee, Franzel JB van Duijnhoven, Elizabeth A Platz, Anna H Wu, Christopher H Dampier, Albert de la Chapelle, Alicja Wolk, Amit D Joshi, Andrea Burnett-Hartman, Andrea Gsur, Annika Lindblom, Antoni Castells, Aung Ko Win, Bahram Namjou, Bethany Van Guelpen, Catherine M Tangen Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2020

Abstract

Accurate colorectal cancer (CRC) risk prediction models are critical for identifying individuals at low and high risk of developing CRC, as they can then be offered targeted screening and interventions to address their risks of developing disease (if they are in a high-risk group) and avoid unnecessary screening and interventions (if they are in a low-risk group). As it is likely that thousands of genetic variants contribute to CRC risk, it is clinically important to investigate whether these genetic variants can be used jointly for CRC risk prediction. In this paper, we derived and compared different approaches to generating predictive polygenic risk scores (PRS) from genome-wide associatio..

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