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Published 20 hours ago • verified publisher icon phenopackets

variant

Open pnrobinson opened this issue 8 years ago • 1 comments

It would be better to put the variant and the genotye into separate elements

  • type: OPA1 value: "homozygous c.1601T>G"
  • value: c.1601T>G
  • genotype: homozygous

Also, c.1601T>G is not yet correct HGVS. We also need to demand a transcript for instance. We should, at least in the future for our uber-phenopacket-widget, run something like Mutalyzer to check the mutation nomenclature, this is extremely important for interoperability!

pnrobinson avatar Mar 07 '16 06:03 pnrobinson