학술논문

Navigating the Phenotype Frontier: The Monarch Initiative
Document Type
article
Source
Genetics. 203(4)
Subject
Biotechnology
Human Genome
Networking and Information Technology R&D (NITRD)
Genetics
Generic health relevance
Good Health and Well Being
Computational Biology
Databases
Genetic
Genetic Association Studies
Genomics
Humans
Precision Medicine
Sequence Analysis
DNA
Sequence Analysis
Protein
comparative medicine
data integration
disease diagnosis
disease discovery
phenotype ontologies
Developmental Biology
Language
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.