I have been virtually attending the GA4GHÂ Variant Modeling Collaboration meeting in Boston, bringing together ClinGen, GA4GH, HL7, FHIR, NCBI and others to find agreement on how we model sequence variation. The Sequence Ontology plays a role here given its history and usage in genomic annotation and variant annotation tools. The outcomes of this group will hopefully be agreed upon terminology, use cases and a shared model.
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