MouseFinder: Candidate Disease Genes from Mouse Phenotype Data

被引：41

作者：

Chen, Chao-Kung ^{[1
]}

Mungall, Christopher J. ^{[2
]}

Gkoutos, Georgios V. ^{[3
]}

Doelken, Sandra C. ^{[4
,5
]}

Koehler, Sebastian ^{[4
,6
]}

Ruef, Barbara J. ^{[7
]}

Smith, Cynthia ^{[8
]}

Westerfield, Monte ^{[7
]}

Robinson, Peter N. ^{[4
,5
,6
]}

Lewis, Suzanna E.

Schofield, Paul N. ^{[8
,9
]}

Smedley, Damian ^{[1
]}

机构：

[1] European Bioinformat Inst, Vertebrate Genom Team, Cambridge CB10 1SD, England

[2] Univ Calif Berkeley, Lawrence Berkeley Natl Lab, Genom Div, Berkeley, CA 94720 USA

[3] Univ Cambridge, Dept Genet, Cambridge CB2 3EH, England

[4] Charite, Computat Biol Grp, Inst Med & Human Genet, D-13353 Berlin, Germany

[5] Max Planck Inst Mol Genet, Res Grp Mundlos, D-14195 Berlin, Germany

[6] Charite, Berlin Ctr Regenerat Therapies, D-13353 Berlin, Germany

[7] Univ Oregon, Inst Neurosci, ZFIN, Eugene, OR 97403 USA

[8] Jackson Lab, Bar Harbor, ME 04609 USA

[9] Univ Cambridge, Dept Physiol Dev & Neurosci, Cambridge, England

来源：

HUMAN MUTATION | 2012年 / 33卷 / 05期

关键词：

phenotype; candidate disease genes; model organism; mouse; GENOME DATABASE; ONTOLOGIES; RESOURCE; ARTEMIN;

D O I：

10.1002/humu.22051

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mouse phenotype data represents a valuable resource for the identification of disease-associated genes, especially where the molecular basis is unknown and there is no clue to the candidate gene's function, pathway involvement or expression pattern. However, until recently these data have not been systematically used due to difficulties in mapping between clinical features observed in humans and mouse phenotype annotations. Here, we describe a semantic approach to solve this problem and demonstrate highly significant recall of known disease-gene associations and orthology relationships. A Web application (MouseFinder; www.mousemodels.org) has been developed to allow users to search the results of our whole-phenome comparison of human and mouse. We demonstrate its use in identifying ARTN as a strong candidate gene within the 1p34.1-p32 mapped locus for a hereditary form of ptosis. Hum Mutat 33: 858-866, 2012. (C) 2012 Wiley Periodicals, Inc.

引用

页码：858 / 866

页数：9

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