PCAN
The software tool "PCAN" (Phenotype Consensus Analysis) addresses the challenge of bridging genotype and phenotype in biomedical research by integrating known gene-phenotype associations within molecular signaling networks. PCAN assesses the consensus semantic similarity of phenotypes in a candidate gene's signaling neighborhood, offering an intuitive approach to prioritize and interpret genes underlying disease traits. The method demonstrates significant phenotype consensus for a substantial portion of OMIM disease-gene associations, showcasing its effectiveness. The tool is designed to be flexible and versatile, allowing for easy configuration and extension.
Topic
Genotype and phenotype;Genetics;Molecular interactions, pathways and networks
Detail
Operation: Sequence comparison;Pathway or network comparison
Software interface: Command-line user interface,Library
Language: R
License: Attribution-NonCommercial-NoDerivs 4.0
Cost: Free
Version name: 1.30.0
Credit: UCB Pharma.
Input: -
Output: -
Contact: Matthew Page matthew.page@ucb.com and Patrice Godard patrice.godard@gmail.com
Collection: -
Maturity: Stable
Publications
- PCAN: phenotype consensus analysis to support disease-gene association.
- Godard P and Page M. PCAN: phenotype consensus analysis to support disease-gene association. PCAN: phenotype consensus analysis to support disease-gene association. 2016; 17:518. doi: 10.1186/s12859-016-1401-2
- https://doi.org/10.1186/s12859-016-1401-2
- PMID: 27923364
- PMC: PMC5142268
Download and documentation
Source: http://bioconductor.org/packages/release/bioc/src/contrib/PCAN_1.30.0.tar.gz
Documentation: http://bioconductor.org/packages/release/bioc/manuals/PCAN/man/PCAN.pdf
Home page: http://bioconductor.org/packages/release/bioc/html/PCAN.html
Links: http://bioconductor.org/packages/release/bioc/vignettes/PCAN/inst/doc/PCAN.html
Links: http://bioconductor.org/packages/release/bioc/vignettes/PCAN/inst/doc/PCAN.R
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