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GFINDer: genetic disease and phenotype location statistical analysis and mining of dynamically annotated gene lists.

Abstract：

:Phenotype analysis is commonly recognized to be of great importance for gaining insight into genetic interaction underlying inherited diseases. However, few computational contributions have been proposed for this purpose, mainly owing to lack of controlled clinical information easily accessible and structured for computational genome-wise analyses. We developed and made available through GFINDer web server an original approach for the analysis of genetic disorder related genes by exploiting the information on genetic diseases and their clinical phenotypes present in textual form within the Online Mendelian Inheritance in Man (OMIM) database. Because several synonyms for the same name and different names for overlapping concepts are often used in OMIM, we first normalized phenotype location descriptions reducing them to a list of unique controlled terms representing phenotype location categories. Then, we hierarchically structured them and the correspondent genetic diseases according to their topology and granularity of description, respectively. Thus, in GFINDer we could implement specific Genetic Disorders modules for the analysis of these structured data. Such modules allow to automatically annotate user-classified gene lists with updated disease and clinical information, classify them according to the genetic syndrome and the phenotypic location categories, and statistically identify the most relevant categories in each gene class. GFINDer is available for non-profit use at http://www.bioinformatics.polimi.it/GFINDer/.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Masseroli M,Galati O,Pinciroli F

doi

10.1093/nar/gki454

keywords:

subject

Has Abstract

pub_date

2005-07-01 00:00:00

pages

W717-23

issue

Web Server issue

eissn

0305-1048

issn

1362-4962

pii

33/suppl_2/W717

journal_volume

33

pub_type

杂志文章

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