Comment:

The Standard Profile for Genetics is a good start for this domain, but it should be emphasized that it represents one view on reporting generic genetic results. Other profiles that represent specific use cases will no doubt reuse these extensions, but in specialized formats (e.g., histoimmunogenetics), and new extensions defined for those use cases. Separate resources/extensions that specifically define sequences and variants of those sequences will need to be created, that include metadata such as coordinate systems (0- or 1-based, and open and/or closed), which differ depending on use cases. Even in this single use case, the coordinate system is not defined which turns understanding the genomicstart and genomicstop coordinates into making trying to make an educated decision (e.g., default to whatever HGVS or VCF is using, or what BED, UCSC internal formats and Genomic Alliance standards are being used).