PRSice-2

介绍

PRSice-2: Polygenic Risk Score software

引用：Choi, S.W., Mak, T.S. & O’Reilly, P.F. Tutorial: a guide to performing polygenic risk score analyses. Nat Protoc (2020). https://doi.org/10.1038/s41596-020-0353-1

PRSice (pronounced ‘precise’) is a Polygenic Risk Score software for calculating, applying, evaluating and plotting the results of polygenic risk scores (PRS) analyses. Some of the features include:

1. High-resolution scoring (PRS calculated across a large number of P-value thresholds)
2. Identify Most predictive PRS
3. Empirical P-values output (not subject to over-fitting)
4. Genotyped (PLINK binary) and imputed (Oxford bgen v1.2) data input
5. Biobank-scale genotyped data can be analysed within hours
6. Incorporation of covariates
7. Application across multiple target traits simultaneously
8. Results plotted in several formats (bar plots, high-res plots, quantile plots)
9. PRSet: function for calculating PRS across user-defined pathways / gene sets