ArticleNature methods2015
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
Article in Nature methods, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 267 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
267 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A comprehensive map of disease networks and molecular drug discoveries for glaucoma.Scientific reports · 2020Pooled it
- PhenoSS: phenotype semantic similarity-based approach for rare disease prediction and patient clustering.Journal of the American Medical Informatics Association : JAMIA · 2026Article
- Multi-database pharmacovigilance identifies disproportionate reporting of hepatobiliary events with avacopan: an integrative study with network pharmacology and interpretable machine learning.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.medRxiv : the preprint server for health sciences · 2026Article
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.European journal of human genetics : EJHG · 2026Article
- RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.Genome medicine · 2026Article
- SCN5AInternational journal of legal medicine · 2026Article
- A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Scientific reports · 2026Article
- Genetic and functional insights into long noncoding RNAs in schizophrenia.Molecular psychiatry · 2026Article
- Dual Renal and Cardiac Phenotypes Associated with Rare Variants Inherited from Both Parents.Internal medicine (Tokyo, Japan) · 2026Article
- PhenoSS: Phenotype semantic similarity-based approach for rare disease prediction and patient clustering.medRxiv : the preprint server for health sciences · 2026Article
- Polyploid and Chromosomal Copy Number Gain Cells in Metastatic Colon Cancer: Exploratory Genotype-Phenotype Correlations.Cancers · 2026Article
- Article
- Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant.Journal of cellular and molecular medicine · 2026Article
- Salidroside attenuates calcium oxalate-induced renal injury via suppression of PANoptosis.Urolithiasis · 2026Article
- Potential efficacy and preliminary mechanistic insights of the Jianpi Yishen Zhuanggu Tongluo formula for rheumatoid arthritis with sarcopenia-osteopenia: an integrated pilot study.Frontiers in pharmacology · 2026Article
- Oligometastatic versus polymetastatic colon cancer: functional and genomic determinants of divergent metastatic trajectories.Exploration of targeted anti-tumor therapy · 2026Article
- Germline Pathogenic Variant in the APC Gene Suggestive of Gardner Syndrome in a Pony.Case reports in veterinary medicine · 2026Article
- Tumor mutational burden modulates the prognostic effect of RAS mutations in metastatic colon cancer: mechanistic insights and genotype-phenotype correlations.Journal of translational medicine · 2025Article
- Genetic variants linked to type 2 diabetes in CDKN1B and TCF7L2 influence survival outcomes in metastatic colorectal cancer.International journal of cancer · 2025Article
207 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.