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


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