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Should I be able to create a sequenceLocation that is based on a reference sequence that does not have a So for now, if my biocommons.seqrepo service does not have certain accessions in it (i.e. ensembl sequences) and I come across an hgvs or vcf record that is based on an ensembl sequence, I cannot represent this as a VRS allele, cnv, etc..., which feels incorrect. This is sort of important to resolve (asap) because I'm trying to determine whether to always fall back to a categorical I'm good with taking the really obscure non-computational variants in clinvar and representing them as Suggestion... |
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From @ahwagner on 3/14/2024 (via ga4gh slack thread)...
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From @ahwagner on 3/14/2024 (via ga4gh slack thread)...