Navigating the Phenotype Frontier: The Monarch Initiative

作者：McMurry Julie A; Koehler 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 O B; 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^*

来源：GENETICS, 2016, 203(4): 1491-1495.

DOI：10.1534/genetics.116.188870

• comparative medicine
• data integration
• disease diagnosis
• disease discovery
• phenotype ontologies

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.

• 出版日期2016-8
• 单位河北医科大学