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cancervariants / fusions

A repository for tracking documents, issues, and tools for the VICC / ClinGen gene fusion curation SOP
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Examples of three-partner fusions in specification #24

Open ahwagner opened 2 years ago

ahwagner commented 2 years ago

Name Shivani Golem

Occupation (Optional) Associate Professor; Director, Quality Assurance and Patient Safety, Genomics Diagnostic Division; Medical Director, Cytogenetics

Professional Degrees (Optional) PhD, FACMG

Institutional Affiliation (Optional) The University of Kansas Health System

Please provide any comments you have on the guidelines Have a question regarding inclusion of poly gene fusion transcripts, see below examples. There are many more. • EML4::ALK::WDR43 PMID: 28215724 • PDRG1::ARF3::RUNX1T1 PMID: 22927308

ahwagner commented 2 years ago

Proposed resolution: include these examples in the specification to demonstrate how these are represented using the nomenclature, and select one of these as a demo instance in the fusion representation tool.