Open ahwagner opened 2 months ago
A preliminary survey of interest (where every participant was allowed to vote twice) resulted in 15 votes for this topic.
Motive and opportunity: MYC rearrangements in high-grade B-cell lymphoma with MYC and BCL2 rearrangements (an LLMPP study) https://pubmed.ncbi.nlm.nih.gov/38701426/
One of the fusion databases that I use (in case useful):
CytoConverter : Cytogenetic Nomenclature to Genomic Coordinate Translator https://jxw773.shinyapps.io/Cytogenetic__software/
Used in Mitelman website
Submitter Name
Alex Wagner
Submitter Affiliation
Nationwide Children’s Hospital
Submitter Github Handle
Ahwagner
Additional Submitter Details
No response
Project Details
While several community resources exist to evaluate the clinical significance of cytogenomic abnormalities, a lack of data standards in this space limits computational exchange and search of this knowledge.
This session will explore potential use cases, standards, and tools that may inform development of GA4GH standards for the computable sharing and search of cytogenomics knowledge.
Relevant background material:
Required Skills
Familiarity with cytogenomics databases, data standards, and/or analysis tools.