Research Object Crate for GLOWgenes

Original URL: https://workflowhub.eu/workflows/1866/ro_crate?version=1

# GLOWgenes Prioritization of gene diseases candidates by disease-aware evaluation of heterogeneous evidence networks Visit www.glowgenes.org for more information ## Citing de la Fuente L, Del Pozo-Valero M, Perea-Romero I, Blanco-Kelly F, Fernández-Caballero L, Cortón M, Ayuso C, Mínguez P. Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International Journal of Molecular Sciences. 2023; 24(2):1661. https://doi.org/10.3390/ijms24021661 ## Requirements R (tested with version 3.5.0). R packages: optparse, caret Python 2.7 or 3.6 Python packages: numpy (tested with version 1.11.0), pandas (tested with version 0.19.0), scipy (tested with version 0.18.1), sklearn (tested with version 0.0), networkx (tested with version 3.0) ## Obtaining network files Download network files from: Minguez, Pablo (2022): GLOWgenesNets.zip. figshare. Dataset. https://doi.org/10.6084/m9.figshare.21408393.v1 You could also generate your own networks or selected a subset from theose provided by GLOWgenes ## Editing networks config file Edit networks_knowledgeCategories.cfg file with your complete directory route to the network files e.g. substitute PATH by home/pablo/GLOWgenesNets in every line, as in: /PATH/coexpressionCOXPRESdbEXT_HGNCnets.txt ## Running GLOWgenes usage: GLOWgenes.py [-h] -i INPUT -n NETWORKS -o OUTPUT [-t] [-p] [-f FILTERING] [-en EXPNORM] [-co CUTOFF] [-r RATIO] python GLOWgenes.py -i diseaseGenes.txt -n networks.cfg -o outputdir -p Use complete paths to avoid errors ## Parameters Mandatory parameters: **-i --input INPUT** File listing known associated disease genes **-n --networks NETWORKS** Evidence network config file. Three tab-separated fields: network path, network name, network category [Default network config file](networks_knowledgeCategories.cfg) DEFAULT NETWORK CONFIG FILE IS LOCATED AT TEST FOLDER **-o --output OUTPUT** Output directory **-p, --panelapp** Disease-associated genes in PanelApp format Gene Panels from PanelApp can be download from https://panelapp.genomicsengland.co.uk/panels/. **-t, --timeprinted** Knowledge accumulation approach. **-f FILTERING, --filtering FILTERING** List of candidate genes. Edges involving genes not listed here are filtered from networks **-en EXPNORM, --expnorm EXPNORM** Expression levels file. Two tab-separated fields: gene name, expression level **-co CUTOFF, --cutoff CUTOFF** Maximum seed initialization value when considering gene expression levels. Range 0-1 **-r RATIO, --ratio RATIO** Training ratio for random training/test splits ## Running an example Within directory example you have full intructions to test GLOWgenes

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Main Workflow: GLOWgenes
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