Disease-Specific Integration of Omics Data to Guide Functional Validation of Genetic Associations

• Published in: AMIA ... Annual Symposium proceedings Vol. 2017; pp. 1589 - 1596
• Main Authors: Shumyatcher, Maya, Hong, Rui, Levin, Jessica, Himes, Blanca E
• Format: Journal Article
• Language: English
• Published: United States American Medical Informatics Association 2017
• Subjects: Asthma - genetics; Gene Expression; Genetic Association Studies; Genome-Wide Association Study; Genomics; Humans; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Software; Transcriptome
• ISSN: 1559-4076

Unbiased genetic association studies, including genome-wide association and whole-genome sequencing studies, have uncovered many novel disease-associated variants. Relatively few of these associated regions, however, have led to insights that are biologically mechanistic or clinically actionable due in part to the difficulty in designing appropriate functional validation studies to understand how variants contribute to disease. Asthma is a complex inflammatory lung disease for which many genetic associations have been identified. Using asthma as a disease model, we designed Reducing Associations by Linking Genes And transcriptomic Results (REALGAR), an app that facilitates the design of functional validation studies by integrating cell- and tissue-specific results of diseaserelevant gene expression and other omics studies. Via specific examples, we demonstrate how integrated gene- centric and disease-specific information leads to asthma insights, and more broadly, can help understand complex diseases.