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Examples of three-partner fusions in specification #24

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ahwagner opened this issue Sep 16, 2022 · 1 comment
Open

Examples of three-partner fusions in specification #24

ahwagner opened this issue Sep 16, 2022 · 1 comment
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@ahwagner
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Name
Shivani Golem

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

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PhD, FACMG

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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
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ahwagner commented Sep 16, 2022

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.

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