A literature-based approach for curating gene signatures in multifaceted diseases

• Main Authors: Mathieu Garand, Manoj Kumar, Susie Shih Yin Huang, Souhaila Al Khodor
• Format: Article
• Language: English
• Published: BMC 2020-07-01
• Series: Journal of Translational Medicine
• Online Access: http://link.springer.com/article/10.1186/s12967-020-02408-7

Abstract Background and aims The task of identifying a representative and yet manageable target gene list for assessing the pathogenesis of complicated and multifaceted diseases is challenging. Using Inflammatory Bowel Disease (IBD) as an example, we conceived a bioinformatic approach to identify novel genes associated with the various disease subtypes, in combination with known clinical control genes. Methods From the available literature, we used Acumenta Literature LabTM (LitLab), network analyses, and LitLab Gene Retriever to assemble a gene pool that has a high likelihood of representing immunity-related subtype-specific signatures of IBD. Results We generated six relevant gene lists and 21 intersections that contain genes with unique literature associations to Crohn’s Disease (n = 60), Ulcerative Colitis (n = 17), and unclassified (n = 45) subtypes of IBD. From this gene pool, we then filtered and constructed, using network analysis, a final list of 142 genes that are the most representative of the disease and its subtypes. Conclusions In this paper, we present the bioinformatic construction of a gene panel that putatively contains subtype signatures of IBD, a multifactorial disease. These gene signatures will be tested as biomarkers to classify patients with IBD, which has been a clinically challenging task. Such approach to diagnose and monitor complicated disease pathogenesis is a stepping-stone towards personalized care.