Curating gene fusion events from clinical testing and the literature involves knowledge of several related components. Knowledge of the gene partners involved, required functional domains or exons, expected orientation of the genes involved, associated chromosomal events, method of detection, and additional alterations associated with these events all influence the way a gene fusion is described and interpreted.
In this project, we seek to capture the molecular and functional characterization of events from individual observation to categorical statements. The resulting product will be a Standard Operating Procedure for the precise curation and representation of gene fusions for clinical interpretation and knowledge sharing, based on consensus recommendation from participating professional societies.
This project was initiated from joint activity between the ClinGen Somatic Working Group and the Variant Interpretation for Cancer Consortium. We are soliciting community input to collect requirements and best practices in use by the community. If you wish to participate, please start by filling out a contributor form to be added to our mailing lists for discussions on this topic.
We are in the early stages of drafting our SOP, and are still heavily focused on gathering input from the community to shape the eventual content. You may comment directly on the living manuscript draft, or provide trackable feedback on our GitHub repository.
Below is a list of prior works and resources related to this initiative:
Please contact Alex Wagner for more information on this project.