Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond
Documentation: https://cnag-biomedical-informatics.github.io/pheno-ranker
Google Colab tutorial: https://colab.research.google.com/drive/1n3Etu4fnwuDWNveSMb1SzuN50O2a05Rg
CPAN Distribution: https://metacpan.org/pod/Pheno::Ranker
Docker Hub Image: https://hub.docker.com/r/manuelrueda/pheno-ranker/tags
Web App UI: https://pheno-ranker.cnag.eu
pheno-ranker: A script that performs semantic similarity in PXF/BFF data structures and beyond (JSON|YAML)
pheno-ranker -r <individuals.json> -t <patient.json> [-options]
Arguments:
* Cohort mode:
-r, --reference <file> BFF/PXF file(s) in JSON or YAML format (array or object)
* Patient mode:
-t, --target <file> BFF/PXF file in JSON or YAML format (object or array of 1 object)
Options:
-age Include age-related variables; excludes agent-like terms (BFF/PXF-only) [>no-age|age]
-a, --align [path/basename] Write alignment file(s). If not specified, default filenames are used [default: alignment.*]
-append-prefixes <prefixes> Prefixes for primary_key when #cohorts >= 2 [default: C]
-config <file> YAML config file to modify default parameters [default: share/conf/config.yaml]
-cytoscape-json [file] Serializes the pairwise comparison matrix as an undirected graph in JSON, compatible with Cytoscape [default: graph.json]
-e, --export [path/basename] Export miscellaneous JSON files. If not specified, default filenames are used [default: export.*]
-exclude-terms <terms> Exclude BFF/PXF terms (e.g., --exclude-terms sex, id) or column names in JSON-derived from CSV
-graph-stats [file] Generates a text file with key graph metrics, for use with <-cytoscape-json> [default: graph_stats.txt]
-include-hpo-ascendants Include ascendant terms from the Human Phenotype Ontology (HPO)
-include-terms <terms> Include BFF/PXF terms (e.g., --include-terms diseases) or column names in JSON-derived from CSV
-max-number-var <number> Maximum variables for binary string [default: 10000]
-max-out <number> Print only N comparisons [default: 50]
-o, --out-file <file> Output file path [default: -r matrix.txt | -t rank.txt]
-poi, --patients-of-interest <id_list> Export JSON files for the selected individual IDs during a dry-run
-poi-out-dir <directory> Directory for JSON files (used with --poi)
-similarity-metric-cohort <metric> Similarity metric for cohort mode [>hamming|jaccard]
-sort-by <metric> Sort by Hamming distance or Jaccard index [>hamming|jaccard]
-w, --weights <file> YAML file with weights
Generic Options:
-debug <level> Print debugging (from 1 to 5, being 5 max)
-h, --help Brief help message
-log Save log file [default: pheno-ranker-log.json]
-man Full documentation
-no-color Toggle color output [>color|no-color]
-v, --verbose Verbosity on
-V, --version Print version
Pheno-Ranker is a lightweight, easy-to-install tool for performing semantic similarity analysis on phenotypic data in JSON/YAML formats, including Beacon v2 Models and Phenopackets v2. It also supports pre-processed CSV files prepared using the included csv2pheno-ranker
utility.
The script runs on command-line Linux and it has been tested on Debian/RedHat/macOS based distributions (only showing commands for Debian). Perl 5 is installed by default on Linux,
but we will install a few CPAN modules with cpanminus
.
First install system level dependencies:
sudo apt-get install cpanminus libperl-dev
Now you have to choose between one of the 2 options below:
Option 1: System-level installation:
cpanm --notest --sudo Pheno::Ranker
pheno-ranker -h
Option 2: Install Pheno-Ranker and the dependencies at ~/perl5
cpanm --local-lib=~/perl5 local::lib && eval $(perl -I ~/perl5/lib/perl5/ -Mlocal::lib)
cpanm --notest Pheno::Ranker
pheno-ranker --help
To ensure Perl recognizes your local modules every time you start a new terminal, you should type:
echo 'eval $(perl -I ~/perl5/lib/perl5/ -Mlocal::lib)' >> ~/.bashrc
Please follow these instructions.
git clone https://github.com/cnag-biomedical-informatics/pheno-ranker.git
cd pheno-ranker
Install system level dependencies:
sudo apt-get install cpanminus libperl-dev
Now you have to choose between one of the 2 options below:
Option 1: Install dependencies (they're harmless to your system) as sudo
:
cpanm --notest --sudo --installdeps .
bin/pheno-ranker --help
Option 2: Install the dependencies at ~/perl5
:
cpanm --local-lib=~/perl5 local::lib && eval $(perl -I ~/perl5/lib/perl5/ -Mlocal::lib)
cpanm --notest --installdeps .
bin/pheno-ranker --help
To ensure Perl recognizes your local modules every time you start a new terminal, you should type:
echo 'eval $(perl -I ~/perl5/lib/perl5/ -Mlocal::lib)' >> ~/.bashrc
Optional: If you want to use utils/barcode
or utils/bff_pxf_plot
:
sudo apt-get install python3-pip libzbar0
pip3 install -r requirements.txt
Download a docker image (latest version - amd64|x86-64) from Docker Hub by executing:
docker pull manuelrueda/pheno-ranker:latest
docker image tag manuelrueda/pheno-ranker:latest cnag/pheno-ranker:latest
See additional instructions below.
Please download the Dockerfile
from the repo:
wget https://raw.githubusercontent.com/cnag-biomedical-informatics/pheno-ranker/main/Dockerfile
And then run:
# Docker Version 19.03 and Above (Supports buildx)
docker buildx build -t cnag/pheno-ranker:latest .
# Docker Version Older than 19.03 (Does Not Support buildx)
docker build -t cnag/pheno-ranker:latest .
To run the container (detached) execute:
docker run -tid -e USERNAME=root --name pheno-ranker cnag/pheno-ranker:latest
To enter:
docker exec -ti pheno-ranker bash
The command-line executable can be found at:
/usr/share/pheno-ranker/bin/pheno-ranker
The default container user is root
but you can also run the container as $UID=1000
(dockeruser
).
docker run --user 1000 -tid --name pheno-ranker cnag/pheno-ranker:latest
Docker containers are fully isolated. If you need the mount a volume to the container please use the following syntax (-v host:container
).
Find an example below (note that you need to change the paths to match yours):
docker run -tid --volume /media/mrueda/4TBT/data:/data --name pheno-ranker-mount cnag/pheno-ranker:latest
Then I will do something like this:
# First I create an alias to simplify invocation (from the host)
alias pheno-ranker='docker exec -ti pheno-ranker-mount /usr/share/pheno-ranker/bin/pheno-ranker'
# Now I use the alias to run the command (note that I use the flag --o to specify the filepath)
pheno-ranker -r /data/individuals.json -o /data/matrix.txt
* Ideally a Debian-based distribution (Ubuntu or Mint), but any other (e.g., CentOS, OpenSUSE) should do as well.
(It should also work on macOS and Windows Server, but we are only providing information for Linux here)
* Perl 5 (>= 5.26 core; installed by default in most Linux distributions). Check the version with "perl -v".
* >= 4GB of RAM
* 1 core
* At least 16GB HDD
For executing pheno-ranker you will need a PXF/BFF file(s) in JSON|YAML format. The reference cohort must be a JSON array, where each individual data are consolidated in one object.
You can download examples from this location.
There are two modes of operation:
-
Cohort mode:
Intra-cohort: With
--r
argument and 1 cohort.Inter-cohort: With
--r
and multiple cohort files. It can be used in combination with--append-prefixes
to add prefixes to each individual id. -
Patient Mode:
With
-r
reference cohort(s) and--t
patient data.
Examples:
$ ./pheno-ranker -r phenopackets.json # intra-cohort
$ ./pheno-ranker -r phenopackets.yaml -o my_matrix.txt # intra-cohort
$ ./pheno-ranker -r phenopackets.json -w weights.yaml --exclude-terms sex ethnicity exposures # intra-cohort with weights
$ $path/pheno-ranker -r individuals.json others.yaml --append-prefixes CANCER CONTROL # inter-cohort
$ $path/pheno-ranker -r individuals.json -t patient.yaml -max-out 100 # mode patient
* Error message: R plotting
Error in scan(file = file, what = what, sep = sep, quote = quote, dec = dec, :
line 1 did not have X elements
Calls: as.matrix -> read.table -> scan
Execution halted
Solution: Make sure that the values of your primary key (e.g., "id") do not contain spaces (e.g., "my fav id" must be "my_fav_id")
* Error message: Foo
Solution: Bar
The author requests that any published work that utilizes Pheno-Ranker
includes a cite to the following reference:
Leist, I.C. et al., (2024). Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond. BMC Bioinformatics. DOI: 10.1186/s12859-024-05993-2
Written by Manuel Rueda, PhD. Info about CNAG can be found at https://www.cnag.eu.
This PERL file is copyrighted. See the LICENSE file included in this distribution.