%0 Journal Article
%T Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions
%A Rajani S Sadasivam
%A Gayathri Sundar
%A Laura K Vaughan
%A Murat M Tanik
%A Donna K Arnett
%J BMC Research Notes
%D 2009
%I BioMed Central
%R 10.1186/1756-0500-2-201
%X Gene RECQuest is a web-based application that assists in the identification of candidate genes from linkage and association studies using information from Online Mendelian Inheritance in Man (OMIM) and PubMed. To illustrate the utility of Gene RECQuest we used it to identify genes physically located within a linkage region as potential candidate genes for a quantitative trait locus (QTL) for very low density lipoprotein (VLDL) response on chromosome 18.Gene RECQuest provides a tool which enables researchers to easily identify and organize literature supporting their own expertise and make informed decisions. It is important to note that Gene RECQuest is a data acquisition and organization software, and not a data analysis method.Complex genetic diseases are due to common variants acting alone or in combination with other genes or the environment to cause disease. For the past several years, genetic linkage has been a mainstay for the analysis of these complex diseases. Although there has been some discussion about the future of genetic linkage studies, there is little debate that genetic linkage studies have had tremendous success in identifying regions of the genome that contribute to a wide variety of complex phenotypes [1]. However, identifying the gene (or genes) underlying a linkage peak or in a region of association which drive the association remains a significant challenge.Linkage studies typically identify regions of association that cover 10-30 cM, which can contain up to 300 genes and be 10-30 Mb in length [2]. In order to identify the causal variant, these regions must then be subjected to fine-mapping, where the area under each region is saturated with additional molecular markers, and these markers are then tested for association with the trait in question. This technique can reduce the area under each region and result in dozens of putative candidate genes for each region. These reduced regions are then subjected to sequence analysis to further refine
%U http://www.biomedcentral.com/1756-0500/2/201