Bayesian ontology querying for accurate and noise-tolerant semantic searches

被引:44
作者
Bauer, Sebastian [1 ]
Koehler, Sebastian [1 ,2 ]
Schulz, Marcel H. [3 ,4 ]
Robinson, Peter N. [1 ,2 ,3 ]
机构
[1] Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany
[2] Charite, Berlin Brandenburg Ctr Regenerat Therapies, D-13353 Berlin, Germany
[3] Max Planck Inst Mol Genet, D-14195 Berlin, Germany
[4] Carnegie Mellon Univ, Ray & Stephanie Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA
关键词
GENE-ONTOLOGY; MODEL; TOOL;
D O I
10.1093/bioinformatics/bts471
中图分类号
Q5 [生物化学];
学科分类号
070307 [化学生物学];
摘要
Motivation: Ontologies provide a structured representation of the concepts of a domain of knowledge as well as the relations between them. Attribute ontologies are used to describe the characteristics of the items of a domain, such as the functions of proteins or the signs and symptoms of disease, which opens the possibility of searching a database of items for the best match to a list of observed or desired attributes. However, naive search methods do not perform well on realistic data because of noise in the data, imprecision in typical queries and because individual items may not display all attributes of the category they belong to. Results:: We present a method for combining ontological analysis with Bayesian networks to deal with noise, imprecision and attribute frequencies and demonstrate an application of our method as a differential diagnostic support system for human genetics.
引用
收藏
页码:2502 / 2508
页数:7
相关论文
共 21 条
[1]
Improved scoring of functional groups from gene expression data by decorrelating GO graph structure [J].
Alexa, Adrian ;
Rahnenfuehrer, Joerg ;
Lengauer, Thomas .
BIOINFORMATICS, 2006, 22 (13) :1600-1607
[2]
McKusick's Online Mendelian Inheritance in Man (OMIM®) [J].
Amberger, Joanna ;
Bocchini, Carol A. ;
Scott, Alan F. ;
Hamosh, Ada .
NUCLEIC ACIDS RESEARCH, 2009, 37 :D793-D796
[3]
[Anonymous], 2011, INTRO BIOONTOLOGIES
[4]
Gene Ontology: tool for the unification of biology [J].
Ashburner, M ;
Ball, CA ;
Blake, JA ;
Botstein, D ;
Butler, H ;
Cherry, JM ;
Davis, AP ;
Dolinski, K ;
Dwight, SS ;
Eppig, JT ;
Harris, MA ;
Hill, DP ;
Issel-Tarver, L ;
Kasarskis, A ;
Lewis, S ;
Matese, JC ;
Richardson, JE ;
Ringwald, M ;
Rubin, GM ;
Sherlock, G .
NATURE GENETICS, 2000, 25 (01) :25-29
[5]
Ayme Segolene, 2003, Soins, P46
[6]
GOing Bayesian: model-based gene set analysis of genome-scale data [J].
Bauer, Sebastian ;
Gagneur, Julien ;
Robinson, Peter N. .
NUCLEIC ACIDS RESEARCH, 2010, 38 (11) :3523-3532
[7]
Christofides N., 1976, SIAM Journal on Computing, V6, P563
[8]
ChEBI:: a database and ontology for chemical entities of biological interest [J].
Degtyarenko, Kirill ;
de Matos, Paula ;
Ennis, Marcus ;
Hastings, Janna ;
Zbinden, Martin ;
McNaught, Alan ;
Alcantara, Rafael ;
Darsow, Michael ;
Guedj, Mickael ;
Ashburner, Michael .
NUCLEIC ACIDS RESEARCH, 2008, 36 :D344-D350
[9]
Improved detection of overrepresentation of Gene-Ontology annotations with parentchild analysis [J].
Grossmann, Steffen ;
Bauer, Sebastian ;
Robinson, Peter N. ;
Vingron, Martin .
BIOINFORMATICS, 2007, 23 (22) :3024-3031
[10]
A TRANSLATION APPROACH TO PORTABLE ONTOLOGY SPECIFICATIONS [J].
GRUBER, TR .
KNOWLEDGE ACQUISITION, 1993, 5 (02) :199-220