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-allelesliced-hla-144-a-coded

Profile: Allele

moleculeType: DNA Sequence

type: DNA Sequence

location

sequenceLocation

sequenceContext: Starting Sequence Resource: HLA00001

coordinateInterval

CoordinateSystems

-SystemOriginNormalizationMethod
*1-based character countingSequence startLeft shift

start: 144

end: 144

representation

focus: Allele State

Literals

-EncodingValue
*Nucleotide DNA 1-letter Unambiguous SymbolsA

representation

focus: Context State

Literals

-EncodingValue
*Nucleotide DNA 1-letter Unambiguous SymbolsC