Navigating the phenotype frontier: The monarch initiative

Julie A. McMurry, Sebastian Köhler, Nicole L. Washington, James P. Balhoff, Charles Borromeo, Matthew Brush, Seth Carbon, Tom Conlin, Nathan Dunn, Mark Engelstad, Erin Foster, Jean Philippe Gourdine, Julius O.B. Jacobsen, Daniel Keith, Bryan Laraway, Jeremy Nguyen Xuan, Kent Shefchek, Nicole A. Vasilevsky, Zhou Yuan, Suzanna E. LewisHarry Hochheiser, Tudor Groza, Damian Smedley, Peter N. Robinson, Christopher J. Mungall, Melissa A. Haendel

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


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 ( provides tools for genotype-phenotype analysis, genomic diagnostics, and precision medicine across broad areas of disease.

Original languageEnglish (US)
Pages (from-to)1491-1495
Number of pages5
Issue number4
StatePublished - Aug 2016


  • Comparative medicine
  • Data integration
  • Disease diagnosis
  • Disease discovery
  • Phenotype ontologies

ASJC Scopus subject areas

  • Genetics


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