Alex H. Wagner, PhD
Alex H. Wagner, PhD
NTRK Fusions curation elements example (initial draft, WIP, from Angshumoy Roy and Gordana Raca, ClinGen Somatic WG): https://drive.google.com/file/d/18EEeIadChFwh79vEBz2knphKsYsfpONu/view?usp=sharing
From Subha (ClinGen Somatic WG), a paper with a few interesting data elements to capture on fusions: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329466/
From Marilyn Li (of AMP/ASCO/CAP guidelines) on fusions in HGVS: > Here is my suggestions to them: > I like the proposed nomenclature which reflects well the nature of fusion...
From a conversation with CIViC team today on fusion representation, capturing a few points shared by @obigriffith: > I think for now users should be aware that if they see...
@d-cameron I encourage you (and other interested participants on this thread) to join in on our VR call tomorrow, where we will be discussing the varying levels of specificity our...
Things to be aware of when designing model: * NCBI overview for their representation of SVs: https://www.ncbi.nlm.nih.gov/dbvar/content/overview/ * HGVS / ISCN overview for representing SVs (named extension only): http://varnomen.hgvs.org/bg-material/consultation/svd-wg004/ *...
Living slide deck with notes on curation and strawman model: http://bit.ly/VR-SVdeck
NCI internal fusion specification (Thomas Coard, Anna Lu, Jennifer Lee): 
Relevant meta-thread from hts-specs: https://github.com/samtools/hts-specs/pull/465
I think that @TanskaAnnna intended to write these comments in the context of some of the comments earlier in this thread ([1](https://github.com/ga4gh/vr-spec/issues/28#issuecomment-512944103), [2](https://github.com/ga4gh/vr-spec/issues/28#issuecomment-512943213), [3](https://github.com/ga4gh/vr-spec/issues/28#issuecomment-512943443), [4](https://github.com/ga4gh/vr-spec/issues/28#issuecomment-516095123)) pertaining to data elements relevant...