These tools assist in the curation and representation of gene fusion data. To do this, they must choose conventions that are not defined in these guidelines, specifically around data exchange. For example, these implementations choose to use SequenceLocation from the Global Alliance for Genomics and Health (GA4GH) Variation Representation Specification (VRS), due to its use of inter-residue coordinates and extensible design. Other implementations may choose different conventions for representation of gene fusion data in system exchange.
The FUSOR data validation / translation Python package provides data classes and constructor tools to create valid gene fusion messages for use in downstream applications. The package is publicly available on the Python Package Index (PyPI).
Gene Fusion Curation Tool
Gene fusion curation educational web tool provides a user interface supporting gene fusion curation. This web tool is primarily an educational resource to demonstrate the computable structure and associated nomenclature for gene fusions constructed in the application.