Improved human disease candidate gene prioritization using mouse phenotype.

Improved human disease candidate gene prioritization using mouse phenotype. Research Abstract Details 

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Improved human disease candidate gene prioritization using mouse phenotype. Abstract Text:

Jing Chen,Huan Xu,Bruce J Aronow,Anil G Jegga,Jing Chen,Huan Xu,Bruce J Aronow,Anil G Jegga,

BACKGROUND: The majority of common diseases are multi-factorial and modified by genetically and mechanistically complex polygenic interactions and environmental factors. High-throughput genome-wide studies like linkage analysis and gene expression profiling, tend to be most useful for classification and characterization but do not provide sufficient information to identify or prioritize specific disease causal genes. RESULTS: Extending on an earlier hypothesis that the majority of genes that impact or cause disease share membership in any of several functional relationships we, for the first time, show the utility of mouse phenotype data in human disease gene prioritization. We study the effect of different data integration methods, and based on the validation studies, we show that our approach, ToppGene http://toppgene.cchmc.org, outperforms two of the existing candidate gene prioritization methods, SUSPECTS and ENDEAVOUR. CONCLUSION: The incorporation of phenotype information for mouse orthologs of human genes greatly improves the human disease candidate gene analysis and prioritization.

Improved human disease candidate gene prioritization using mouse phenotype. Publishing Authors By Initials

J Chen,H Xu,BJ Aronow,AG Jegga,J Chen,H Xu,BJ Aronow,AG Jegga,

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Improved human disease candidate gene prioritization using mouse phenotype. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: BMC bioinformatics

VOLUME: 8

Page Numbers: 392

Journal Abbreviation: BMC Bioinformatics

ISSN: 1471-2105

DAY: 16

MONTH: 10

YEAR: 2007

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LANGUAGE: eng

NlmUniqueID: 100965194

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AFFILIATION: Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, USA. Jing.Chen@cchmc.org

Country: England

AGENCY: United States NCI

GRANT: U01 CA84291-07

ACRONYM: CA

MEDLINETA: BMC Bioinformatics

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