genedistiller—distilling candidate genes from linkage intervals从连杆间隔genedistiller-distilling候选基因.pdfVIP

GeneDistiller—Distilling Candidate Genes from Linkage Intervals 1 1 1,2 Dominik Seelow , Jana Marie Schwarz , Markus Schuelke * ´ ´ 1 Department of Neuropaediatrics, Charite University Medical School, Berlin, Germany, 2 NeuroCure Clinical Research Center, Charite University Medical School, Berlin, Germany Abstract Background: Linkage studies often yield intervals containing several hundred positional candidate genes. Different manual or automatic approaches exist for the determination of the gene most likely to cause the disease. While the manual search is very flexible and takes advantage of the researchers’ background knowledge and intuition, it may be very cumbersome to collect and study the relevant data. Automatic solutions on the other hand usually focus on certain models, remain ‘‘black boxes’’ and do not offer the same degree of flexibility. Methodology: We have developed a web-based application that combines the advantages of both approaches. Information from various data sources such as gene-phenotype associations, gene expression patterns and protein-protein interactions was integrated into a central database. Researchers can select which information for the genes within a candidate interval or for single genes shall be displayed. Genes can also interactively be filtered, sorted and prioritised according to criteria derived from the background knowledge and preconception of the disease under scrutiny. Conclusions: GeneDistiller provides knowledge-driven, fully interactive and intuitive access to multiple data sources. It dis