Paper Info
Title
dbPTB: a database for preterm birth.
Abstract
Genome-wide association studies (GWAS) query the entire genome in a hypothesis-free, unbiased manner. Since they have the potential for identifying novel genetic variants, they have become a very popular approach to the investigation of complex diseases. Nonetheless, since the success of the GWAS approach varies widely, the identification of genetic variants for complex diseases remains a difficult problem. We developed a novel bioinformatics approach to identify the nominal genetic variants associated with complex diseases. To test the feasibility of our approach, we developed a web-based aggregation tool to organize the genes, genetic variations and pathways involved in preterm birth. We used semantic data mining to extract all published articles related to preterm birth. All articles were reviewed by a team of curators. Genes identified from public databases and archives of expression arrays were aggregated with genes curated from the literature. Pathway analysis was used to impute genes from pathways identified in the curations. The curated articles and collected genetic information form a unique resource for investigators interested in preterm birth. The Database for Preterm Birth exemplifies an approach that is generalizable to other disorders for which there is evidence of significant genetic contributions.
Year
DOI
Venue
2012
10.1093/database/bar069
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
Keywords
Field
DocType
genes,workflow,signal transduction
Genome,Biology,Genetic variation,Genome-wide association study,Genetic association,Pathway analysis,Bioinformatics,Database,Semantic data model
Journal
Volume
ISSN
Citations 
2012
1758-0463
2
PageRank 
References 
Authors
0.46
6
8
Name
Order
Citations
PageRank
Alper Uzun1162.87
Alyse Laliberte220.46
Jeremy Parker3433.58
Caroline Andrew420.46
Emily Winterrowd520.46
Surendra Sharma681.35
Sorin Istrail71415170.40
James F Padbury8102.05