The IMI could also control and organize access to metadata (the associated host
disease phenotype data, for a human gut microbiota sample, for instance) without which meaningful interpretation of the data is not possible.
Not exact matches
The resulting
data are being combined in a systems biology approach with high - resolution clinical
phenotyping and findings obtained with a large array of established and novel in vitro, ex vivo and in vivo
disease models to identify
disease - associated genetic variants,
disease - defining molecular signatures, and potential targets for therapeutic intervention.
Personalised Medicine initiatives will benefit greatly from this emerging
data and biological resources which can be used to detect novel genotype - to -
phenotype associations in
diseases.
The Human
Phenotype Ontology project: linking molecular biology and disease through phenot
Phenotype Ontology project: linking molecular biology and
disease through
phenotypephenotype data.
INFRAFRONTIER will provide open access to all newly developed
disease models and
phenotyping data.
Having investigated the different representations of
phenotypes, she applies this knowledge to
data integration and human genetic disorders with the aim of improving the understanding about the molecular mechanisms underlying human
diseases.
It has been set up to address the problem of fragmentation in the rare
disease research field, where individual efforts often have poor interoperability and do not systematically connect
data across the levels of clinical
phenotype, genetics and omics
data, biomaterial availability and research / trial datasets.
The scale and scope of these
data are enabling genotype -
phenotype association studies to identify genetic determinants of pathogen virulence and drug / insecticide resistance, and phylogenetic studies to track the origin and spread of
disease outbreaks.
This
data is essential to ensure that the
phenotype (visible symptoms of a
disease) is correctly categorized.