Linking Mutations in Drosophila to Human Disease
Michael Ashburner, University of Cambridge
Experiments that study the phenotypic consequences of mutations in laboratory organisms such as Drosophila provide valuable models for a better understanding of human diseases. Such research requires a corpus of annotations, for both humans and the model organism, describing the consequences of genetic variation. These annotations are represented in a structured, computable language, to support the necessary comparisons.
In this Driving Biological Project, we are annotating mutations of Drosophila, giving priority to those genes whose human homologs are associated with disease, applying annotations from a Phenotype Ontology that currently is undergoing development in the biomedical community. We are using the Phenotype Ontology to curate the human homologs of the annotated Drosophila genes, using records from the Online Mendelian Inheritance in Man (OMIM) database as the main informative source for this curation. We also are developing the requisite ontologies for the annotation of mutations in the context of model organism databases (Model Organism Databases).
FlyBase is a database of Drosophila genes and genomes with such functions as BLAST, image browsing, term linking, a gene browser and query builder.