Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build International flag

Molecular Definition Implementation Guide for Molecular Data Types, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 1.0.0-ballot1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/molecular-definition-data-types/ and changes regularly. See the Directory of published versions

Example MolecularDefinition: example-sequence-fmr1-cgg-20x-edited-contained

Profile: Sequence

moleculeType: DNA Sequence

type: DNA Sequence

representation

relative

startingMolecule: CGG 20X

edit

coordinateInterval

CoordinateSystems

-System
*1-based character counting

replacementMolecule: A

replacedMolecule: C

Generated Narrative: MolecularDefinition #replacement

Profile: Sequence

moleculeType: DNA Sequence

type: DNA Sequence

representation

Literals

-EncodingValue
*Nucleotide DNA 1-letter Unambiguous SymbolsA

Generated Narrative: MolecularDefinition #replaced

Profile: Sequence

moleculeType: DNA Sequence

type: DNA Sequence

representation

Literals

-EncodingValue
*Nucleotide DNA 1-letter Unambiguous SymbolsC