Release 5 Preview #2
Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeSecurity Category: Patient Compartments: Patient
Example NameidFormat
Simple sequence exampleexampleXMLJSONTurtle
MolecularSequence example from precisionFDAfda-exampleXMLJSONTurtle
Example of representing complex variants in MolecularSequence resourcesequence-complex-variantXMLJSONTurtle
Example of a single varaint on a reference MolecularSequence related to a haplotype observation in PGx exampleexample-pgx-1XMLJSONTurtle
Example of another single varaint on a reference MolecularSequence related to a haplotype observation in PGx example, which will form with the other haplotype data to be a diplotype observation.example-pgx-2XMLJSONTurtle
Example of a TPMT SNP data that support a haplotype observationexample-TPMT-oneXMLJSONTurtle
Example of another TPMT SNP data that support a haplotype observationexample-TPMT-twoXMLJSONTurtle
MolecularSequence Graphic example-1graphic-example-1XMLJSONTurtle
MolecularSequence Graphic example-2graphic-example-2XMLJSONTurtle
MolecularSequence Graphic example-3graphic-example-3XMLJSONTurtle
MolecularSequence Graphic example-4graphic-example-4XMLJSONTurtle
MolecularSequence Graphic example-5graphic-example-5XMLJSONTurtle
Example of a record with 0-based coordinatesystemcoord-0-baseXMLJSONTurtle
Example of a record with 1-based coordinatesystemcoord-1-baseXMLJSONTurtle
MolecularSequence example for vcf comparison on precisionFDAfda-vcf-comparisonXMLJSONTurtle
MolecularSequence example for vcf and Hap.py comparison on precisionFDAfda-vcfeval-comparisonXMLJSONTurtle
MolecularSequence example for patient with breast cancer gene variantbreastcancerXMLJSONTurtle
 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.