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Navigating the Phenotype Frontier: The Monarch Initiative


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.

Type Journal
ISBN 1943-2631 (Electronic) 0016-6731 (Linking)
Authors McMurry, J. A. ; Kohler, S. ; Washington, N. L. ; Balhoff, J. P. ; Borromeo, C. ; Brush, M. ; Carbon, S. ; Conlin, T. ; Dunn, N. ; Engelstad, M. ; Foster, E. ; Gourdine, J. P. ; Jacobsen, J. O. ; Keith, D. ; Laraway, B. ; Xuan, J. N. ; Shefchek, K. ; Vasilevsky, N. A. ; Yuan, Z. ; Lewis, S. E. ; Hochheiser, H. ; Groza, T. ; Smedley, D. ; Robinson, P. N. ; Mungall, C. J.; Haendel, M. A;
Publisher Name GENETICS
Published Date 2016-01-01
Published Volume 203
Published Issue 4
Published Pages 1491-5
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version