Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

Nat Methods. 2015 Sep;12(9):841-3. doi: 10.1038/nmeth.3484. Epub 2015 Jul 20.


Prior biological knowledge and phenotype information may help to identify disease genes from human whole-genome and whole-exome sequencing studies. We developed Phenolyzer (, a tool that uses prior information to implicate genes involved in diseases. Phenolyzer exhibits superior performance over competing methods for prioritizing Mendelian and complex disease genes, based on disease or phenotype terms entered as free text.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Algorithms*
  • Base Sequence
  • Chromosome Mapping / methods*
  • Data Mining / methods
  • Databases, Genetic*
  • Exome / genetics
  • Genetic Diseases, Inborn / genetics*
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human / genetics*
  • Humans
  • Molecular Sequence Data
  • Phenotype
  • Sequence Analysis, DNA / methods
  • Software


  • Genetic Markers