| Literature DB >> 27516611 |
Julie A McMurry1, Sebastian Köhler2, Nicole L Washington3, James P Balhoff4, Charles Borromeo5, Matthew Brush1, Seth Carbon3, Tom Conlin1, Nathan Dunn3, Mark Engelstad1, Erin Foster1, Jean-Philippe Gourdine1, Julius O B Jacobsen6, Daniel Keith1, Bryan Laraway1, Jeremy Nguyen Xuan3, Kent Shefchek1, Nicole A Vasilevsky1, Zhou Yuan5, Suzanna E Lewis3, Harry Hochheiser5, Tudor Groza7, Damian Smedley8, Peter N Robinson2, Christopher J Mungall3, Melissa A Haendel9.
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.Keywords: comparative medicine; data integration; disease diagnosis; disease discovery; phenotype ontologies
Mesh:
Year: 2016 PMID: 27516611 PMCID: PMC4981258 DOI: 10.1534/genetics.116.188870
Source DB: PubMed Journal: Genetics ISSN: 0016-6731 Impact factor: 4.562