Announcement

Our guide paper is now published in nature protocols:

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

You can find the accompany tutorial here

PRSice-2: Polygenic Risk Score software

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:

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

Executable downloads DOICoverage Status

Operating System Link
Linux 64-bit v2.3.3
OS X 64-bit v2.3.3
Windows 32-bit Not available
Windows 64-bit Not available

Latest Update

2020-08-05 (v2.3.3)

  • Thanks to report from @charlisech, we were able to pinpoint a bug related to sample selection when using bgen data.

2020-05-18 (v2.3.0)

  • We now support multi-threaded clumping (separated by chromosome)
  • Genotypes will be stored to memory during clumping (increase memory usage, significantly speed up clumping)
  • Will only generate one .prsice file for all phenotypes
    • .prsice file now has additional column call "Pheno"
  • Introduced --chr-id which generate rs id based on user provided formula (see detail for more info)
  • Format of --base-maf and --base-info are now changed to <name>:<value> from <name>,<value>
  • If user provided the --stat information, PRSice will now error out instead of trying to look for BETA or OR in the file.

update log for previous release can be found here

Caution

We have now fixed window problem. But was unable to access the computer that is used for compilation due to COVID. Will try to compile it when we regain access.

Caution

PRSet are currently under open beta - results output are reliable but please report any specific problems to our google group (see Support below)3

R Packages Requirements

To plot graphs, PRSice requires R (version 3.2.3+) installed.

Additional steps might be required for Mac and Windows users.

Installing required R packages

PRSice can automatically download all required packages, even without administrative right. You can specify the install directory using --dir. For example

    Rscript PRSice.R --dir .

will install all required packages under the local directory.

Quick Start

For Quick start use, please refer to Quick Start

List user options

You can also type

    ./PRSice

to view all available parameters unrelated to plotting, or

    Rscript PRSice.R -h

to view all available parameters, including those used for plotting

Output of Results

You can see the expected output of PRSice here

Detailed Guide

You can find a more detailed document explaining the input and output of PRSice in this page

Full command line options

You can find all command line options of PRSice under the section Details of PRSice/PRSet

Citation

If you use PRSice, then please cite:

Citation

Choi SW, and O’Reilly PF. "PRSice-2: Polygenic Risk Score Software for Biobank-Scale Data." GigaScience 8, no. 7 (July 1, 2019). https://doi.org/10.1093/gigascience/giz082.

Support

This wiki should contain all the basic instruction for the use of PRSice. Shall you have any problems, please feel free to start an issue here or visit our google group. You can help us to speed up the debug process by including the log file generated by PRSice.

In addition, you can use the search bar in this webpage to search for specific functions.

Authors

For more details on the authors, see:

PRSice-2 and all new functionalities are coded by:

Acknowledgement

PRSice is a software package written in C++ (main) and R (plotting). The code relies partially on those written in PLINK by Christopher Chang. Management of BGEN file is based on BGEN lib written by Gavin Band. We also utilize the Eigen C++ library, the gzstream library.