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Oxford University Press, Genetics, 4(203), p. 1491-1495, 2016

DOI: 10.1534/genetics.116.188870

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Navigating the phenotype frontier: The Monarch Initiative

Journal article published in 2016 by Julie A. McMurry ORCID, Sebastian Kohler ORCID, Nicole L. Washington ORCID, James P. Balhoff ORCID, Charles Borromeo ORCID, Matthew Brush ORCID, Seth Carbon ORCID, Tom Conlin ORCID, Nathan Dunn ORCID, Mark Engelstad ORCID, Erin Foster ORCID, Jean-Philippe Gourdine ORCID, Julius Ob B. Jacobsen ORCID, Daniel Keith ORCID, Bryan Laraway ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.