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@reece Would you have notes or be able to draft a paragraph or two on the policy decision we made regarding the rationale not to VOCA normalize "same as reference" variation? Our documentation could use this. Some folks have been asking.
Currently if someone tries to VRSify an allele that has a change from the reference we do a VOCA normalization to derive the fully normalized span of reference sequence and the dervied variation that would produce the change originally sought.
However, if someone tries to VRSify an allele that is the same as reference we do not do any VOCA normalization (but we do verify the sequence matches if provided...i assume) and simply use the exact span with the ref sequence as the state. If this span was within a repeated region it would NOT be expanded fully like a change from reference would.
The text was updated successfully, but these errors were encountered:
@reece Would you have notes or be able to draft a paragraph or two on the policy decision we made regarding the rationale not to VOCA normalize "same as reference" variation? Our documentation could use this. Some folks have been asking.
Currently if someone tries to VRSify an allele that has a change from the reference we do a VOCA normalization to derive the fully normalized span of reference sequence and the dervied variation that would produce the change originally sought.
However, if someone tries to VRSify an allele that is the same as reference we do not do any VOCA normalization (but we do verify the sequence matches if provided...i assume) and simply use the exact span with the ref sequence as the state. If this span was within a repeated region it would NOT be expanded fully like a change from reference would.
The text was updated successfully, but these errors were encountered: