New Copy Number Segment Tool and API in the GDC
The GDC 2.5 Sanger Release includes release of a new copy number segment tool and API endpoint, and other enhancements. Primary features include:
How does the GDC choose the default transcript for each variant?
Submitted by gaheens
on
When a mutation overlaps multiple transcripts or genes, the GDC annotates all consequences in the all_effects column of the MAF file and in the CONSEQUENCE table on the Mutation Summary Page. One transcript is then selected as the default for detailed annotation and visualization where a single consequence is shown.