FB2017_02, released April 18, 2017

A Database of Drosophila Genes & Genomes

Models of human disease in Drosophila melanogaster

In release FB2014_02, FlyBase has begun to display information about genetic models of human disease in Drosophila. Whether you are clinical researcher who wants to find how to study your disease of interest in flies, or a Drosophila researcher interested in the human health implications of the genes on which you are working, the new sections in both our gene and allele reports will provide the information you need. This initial release of disease model data links almost 100 different diseases (as defined within the Disease Ontology) with over 1000 alleles from more than 500 genes. We would like to thank the many users of our ‘Fast Track Your Paper’ tool, who have flagged papers as containing disease model information – we are very grateful for this contribution.

What do we consider to be a disease model?
We are currently attaching disease names to alleles that have been shown to recapitulate one aspect or more of a human disease phenotype. These may be alleles or transgenes of Drosophila genes or human genes transgenically expressed in Drosophila. In addition, we also record those alleles that interact with disease-causing allele(s) to exacerbate (i.e. to make worse) or ameliorate (i.e. lessen) the disease phenotype. In some cases, an allele may be expected to produce a disease phenotype but does not. These unexpectedly negative results are clearly marked by prefixing the relationship to the disease with ‘DOES NOT’.

How can you access human disease model data?
The data can be found on the gene and allele report pages and searched via our new Human Disease tab on QuickSearch, or our ontology browser, TermLink (which has its own big button on the homepage, or can be found in the tools menu). Both of these tools allow users to search for a disease of interest and view the associated disease term report. This report lists the alleles and genes that have been linked to that disease, as well as their relationship to the disease (i.e. whether they model or are an interactor). Disease model information is shown in the new ‘Human Disease Model Data’ section on both the allele and gene report. This section may also contain curated comments that highlight certain features of a model, for example, when particular aspects of a disease phenotype are modeled while others are not. These comments are used sparingly to avoid duplication with our existing detailed phenotype information. Indeed, we hope users will view the existing phenotypic data in conjunction with the disease annotations. Buttons have been added to the gene reports that have alleles annotated with human disease model data, allowing users to view all the human disease model and interaction data associated with that gene. The full human disease model dataset will be available for download as a precomputed data file (Files → Current release in the main FlyBase menu) at our next release, in May 2014.

We will continue to expand this data set from both previously published and new papers in future releases and welcome your feedback on these new sections.