Navigating the Phenotype Frontier: The Monarch Initiative. Issue 4 (1st August 2016)

• Record Type: Journal Article
• Authors: McMurry, Julie A; Köhler, Sebastian; Washington, Nicole L; Balhoff, James P; Borromeo, Charles; Brush, Matthew; Carbon, Seth; Conlin, Tom; Dunn, Nathan; Engelstad, Mark; Foster, Erin; Gourdine, Jean-Philippe; Jacobsen, Julius OB; Keith, Daniel; Laraway, Bryan; Xuan, Jeremy Nguyen; Shefchek, Kent; Vasilevsky, Nicole A; Yuan, Zhou; Lewis, Suzanna E; Hochheiser, Harry; Groza, Tudor; Smedley, Damian; Robinson, Peter N; Mungall, Christopher J; Haendel, Melissa A
• Is Part Of: Genetics. Volume 203:Issue 4(2016)
• Page Start: 1491
• Page End: 1495
• Publication Date: 2016-08-01
• Subjects: comparative medicine -- data integration -- disease diagnosis -- disease discovery -- phenotype ontologies -- Centennial; Genetics -- Periodicals; 576.5
• DOI: 10.1534/genetics.116.188870
• Languages: English
• ISSNs: 0016-6731

Abstract

Abstract: The principles of genetics apply across the entire tree of life. At the cellular level we share biological mechanisms with species from which we diverged millions, even billions of years ago. We can exploit this common ancestry to learn about health and disease, by analyzing DNA and protein sequences, but also through the observable outcomes of genetic differences, i.e. phenotypes. To solve challenging disease problems we need to unify the heterogeneous data that relates genomics to disease traits. Without a big-picture view of phenotypic data, many questions in genetics are difficult or impossible to answer. The Monarch Initiative (https://monarchinitiative.org ) provides tools for genotype-phenotype analysis, genomic diagnostics, and precision medicine across broad areas of disease.