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

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

Yang H1,2, Robinson PN3,4,5,6, Wang K1,7,8.

Author information

1
Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA.
2
Neuroscience Graduate Program, University of Southern California, Los Angeles, California, USA.
3
Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
4
Max Planck Institute for Molecular Genetics, Berlin, Germany.
5
Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.
6
Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Berlin, Germany.
7
Department of Psychiatry, University of Southern California, Los Angeles, California, USA.
8
Division of Bioinformatics, Department of Preventive Medicine, University of Southern California, Los Angeles, California, USA.

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.

PMID:
26192085
PMCID:
PMC4718403
DOI:
10.1038/nmeth.3484
[Indexed for MEDLINE]
Free PMC Article

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