43. Fusion Curation Interface: an educational tool to explore a unified framework for representing & curating gene fusions

Gene fusions are a highly important, but often conflated and ambiguous concept in genomics. Gene fusions hold clinical significance in the understanding of cancers, so contradictory representations of fusion events hinder the ability of the genomics community to effectively share and find knowledge in this area.To overcome the challenges posed by misaligned gene fusion definitions, a cross-consortia panel of experts from the Variant Interpretation for Cancer Consortium (VICC), Cancer Genomics Consortium (CGC), ClinGen, and the CAP/ACMG Cytogenetics Committee developed a unified framework for representing gene fusions, named the Gene Fusion Specification (GFS).
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research