title: Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
abstract: Prior biological knowledge and phenotype information may help to identify disease genes from human whole-genome and whole-exome sequencing studies. We developed Phenolyzer (http://phenolyzer.usc.edu), 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.
authors.affiliation: Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA.|Neuroscience Graduate Program, University of Southern California, Los Angeles, California, USA.
authors.forename: Hui
authors.initials: H
authors.lastname: Yang
authors.affiliation: Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.|Max Planck Institute for Molecular Genetics, Berlin, Germany.|Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.|Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Berlin, Germany.
authors.forename: Peter N
authors.identifier: http://orcid.org/0000-0002-0736-9199
authors.initials: PN
authors.lastname: Robinson
authors.affiliation: Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA.|Department of Psychiatry, University of Southern California, Los Angeles, California, USA.|Division of Bioinformatics, Department of Preventive Medicine, University of Southern California, Los Angeles, California, USA.
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
mesh_terms: D000465:Algorithms; D001483:Base Sequence; D002874:Chromosome Mapping / Q000379:methods*; D057225:Data Mining / Q000379:methods; D030541:Databases, Genetic; D059472:Exome / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D017422:Sequence Analysis, DNA / Q000379:methods; D012984:Software
chemical_list: D005819:Genetic Markers