Supporting Tools

Note

These tools assist in the curation and representation of gene fusion data. To do this, they must choose conventions that are not defined in this specification, 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.

FUSOR

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).

• PyPI package

• Documentation

• Source code

Fusion-Builder

The Fusion-Builder platform provides a web-based interface for curating valid gene fusion objects. It enables interactive construction of fusion components along with their associated metadata, while offering diagnostics to identify incomplete or invalid data. Once validated, the tool generates a compliant JSON representation and corresponding nomenclature. Fusion-Builder can be used to illustrate the requirements of the Gene Fusion Specification, all without the need to install any local software.

• Webtool

• Source code