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Pathway Enrichment-Guided Activity Study of Alternative Splicing (PEGASAS)

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PEGASAS

Pathway Enrichment-Guided Activity Study of Alternative Splicing (PEGASAS)

Web server: We have a web server now! It supports light-weight analysis and various interactive visualizations (scatter plot, hive plot, etc.), check it out by clicking here!

Quick guide

  1. Installation
  2. Dependencies
  3. Usage
  4. Example
  5. Contact
  6. Publication

Installation

The PEGASAS package (including a toy example and data) can be downloaded and installed as shown below:

git clone https://github.com/Xinglab/PEGASAS.git
cd PEGASAS
python setup.py install

Note that the installation process will only automatically check and install python package dependencies. If the R packages required for PEGASAS are missing, they can only be installed manually. See next section for required packages.

Dependencies

python version 2.7 (numpy, scipy, matplotlib)

R version 3.4.0 (LSD, data.table, ggplot2)

Performing PEGASAS analysis

After installing PEGASAS and its dependencies, the user can follow the two steps below to perform the analysis and to generate plots for correlation and Gene Ontology (GO) analysis. (A toy example is provided for a test run. Corresponding commands are provided in the next section.)

There are two steps to perform PEGASAS analysis, as shown below (typing PEGASAS -h in the command line):

usage: PEGASAS [-h] [--version] {pathway,correlation} ...

PEGASAS -- PEGASAS

positional arguments:
  {pathway,correlation}
    pathway             Calculates signaling pathway activity derived from
                        geneset enrichment metric based on RNA-Seq gene
                        expression
    correlation         Computes pathway-correlated alternative splicing
                        events

optional arguments:
  -h, --help            show this help message and exit
  --version             show program's version number and exit

For command line options of each sub-command, type: PEGASAS COMMAND -h
Step 1: Pathway activity calculation

PEGASAS can calculate the signaling pathway activity based on predefined gene signatures and gene expression. For details of this step, see below:

PEGASAS pathway -h
usage: PEGASAS pathway [-h] [-o OUT_DIR] [-n NUM_INTERVAL] [--plotting]
                       geneExpbySample geneSignatureList groupInfo

required arguments:
  geneExpbySample       TSV format matrix of gene expression values (FPKM,
                        TPM, etc.), where each row is one sample and each
                        column is one gene
  geneSignatureList     One or multiple gene signature sets from pathway of
                        interest, in the 'gmt' format (see MSigDB webset)
  groupInfo             TSV format file, providing patient ID and
                        phenotype/disease stage in each row

optional arguments:
  -h, --help            show this help message and exit
  -o OUT_DIR, --out-dir OUT_DIR
                        Name of folder for analysis output
  -n NUM_INTERVAL, --num-interval NUM_INTERVAL
                        Number of parallel processes for KS enrichment calculation
  --plotting            Makes plots to inspect K-S enrichment scores

Note: About input geneSignatureList format: PEGASAS can take multipel gene signatures in one file, which requries a minor modification of gmt (full name of the signature after '>' is removed). See example file under data folder for details.

Step 2: Pathway activity-correlated events

PEGASAS can perform correlation analysis to identify pathway-associated events from the pathway acitivity measurements generated in Step 1 and alternative splicing(or editing, etc.) events. For details of this step, see below:

PEGASAS correlation -h
usage: PEGASAS correlation [-h] [-o OUT_DIR] [--GO] [--GO-only]
                          [-b GO_BACKGROUND_GENE_LIST]
                          [--GOdb-versions GODB_VERSIONS]
                          signatureScorebySample PSIbySample groupNameOrder

required arguments:
 signatureScorebySample
                       A TSV format list of gene signature score where each
                       column is one sample and the corresponding score.
 PSIbySample           A TSV format matrix of PSI values where each column is
                       one sample and each row is one splicing event.
 groupNameOrder        A file contains a comma-separated string of group name
                       orders. The group name should match group info list in
                       the pathway score calculation step. This is useful for
                       the heatmap visualization.

optional arguments:
 -h, --help            show this help message and exit
 -o OUT_DIR, --out-dir OUT_DIR
                       Output folder name of the analysis.
 --GO                  Perform GO analysis.
 --GO-only             Only perform GO analysis. Needs to provide background
                       gene list for p-value calculation.
 -b GO_BACKGROUND_GENE_LIST, --GO-background-gene-list GO_BACKGROUND_GENE_LIST
                       Provides background gene list for GO analysis bias
                       correction. This background list should contain genes
                       involved in the splicing analysis. Required under GO-
                       only mode.
 --GOdb-versions GODB_VERSIONS
                       Specify EnrichR GO db versions. Default is the 2017
                       version used in our PNAS paper PMID: 32086391


Note: About the input PSIbySample TSV format: first 8 columns are used to define splicing events using gene name, AC, chrome, strand, and key coordinates following rMATS output format. See toy example for a concrete example.

Example PEGASAS run

Here are commands for a test run using toy example files provided in the example folder in the package.
Go to PEGASAS folder:

cd PEGASAS

Use hallmarks50-2.gmt.txt as the signature file. This file only contains two gene signatures:

PEGASAS pathway -o test example/geneExpbySample_example.txt PEGASAS/data/hallmarks50-2.gmt.txt example/groupInfo_example.txt

Use the HALLMARK_MYC_TARGETS_V2 signature activity generated in the last step to perform the correlation analysis:

PEGASAS correlation -o test --GO test/HALLMARK_MYC_TARGETS_V2/HALLMARK_MYC_TARGETS_V2.scores.txt example/PSIbySample_example.txt example/groupNameOrder_example.txt

Results can be found under the 'test' folder:

 4.0K  GO/ 
  40K  HALLMARK_MYC_TARGETS_V2_background_list.txt
 924K  HALLMARK_MYC_TARGETS_V2_global_cor_matrix.txt
 3.1K  HALLMARK_MYC_TARGETS_V2_high_cor_matrix.txt
  56K  HALLMARK_MYC_TARGETS_V2_high_cor_scatterplots.pdf
 4.0K  HALLMARK_MYC_TARGETS_V2.pathway/
 1.3K  HALLMARK_MYC_TARGETS_V2.scores.txt
  241  HALLMARK_MYC_TARGETS_V2_sig_list.txt
  579  HALLMARK_MYC_TARGETS_V2.sorted.txt
 2.4M  refinedBySample.PSIbySample_example.HALLMARK_MYC_TARGETS_V2.sorted.txt

HALLMARK_MYC_TARGETS_V2_high_cor_matrix.txt: Pathway-associated events with Pearson's r and permutation p-value.

Contact

Yang Pan [email protected]
Yi Xing [email protected]

Citation

Phillips J.W.*, Pan Y.*, Tsai B.L., Xie Z., Demirdjian L., Xiao W., Yang H.T., Zhang Y., Lin C.H., Cheng D., Hu Q., Liu S., Black D.L., Witte O.N.+, Xing Y.+ Pathway-guided analysis reveals Myc-dependent alternative pre-mRNA splicing in aggressive prostate cancers. Proc. Natl. Acad. Sci. U.S.A., (2020) In Press (+ joint corresponding authors; * joint first authors)