: Public Class
Created: 3/4/2015 2:49:00 PM
Modified: 3/25/2015 4:09:53 PM
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DEFINITION:<br /></p><p>An assembly of nucleotides used to identify genetic variations.<br /></p><p><br /></p><p>EXAMPLE(S):<br /></p><p>"A" might be the reference if the test is Nucleotide.<br /></p><p>"Trp" might be the reference if the test is Amino Acid.<br /></p><p><br /></p><p>OTHER NAME(S):<br /></p><p>Reference Sequence<br /></p><p><br /></p><p>NOTE(S):<br /></p>
Attribute
Public ST
  sequenceIdentifier
Details:
Map:PGx v1.0=PF.PFREFSEQ
Notes: DEFINITION:#lt;br /#gt;#lt;/p#gt;#lt;p#gt;A unique identifier, within a specified database, representing an assembly of nucleotides used to identify a genetic variation.#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;EXAMPLE(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;NP_751919 is an identifier in GENBANK#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;OTHER NAME(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;NOTE(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;The genetic variation may be documented in a public database or in the protocol document.#lt;br /#gt;#lt;/p#gt;
Public ST
  sequenceDatabase
Details:
Map:PGx v1.0=PF.PFREFSEQ
Notes: DEFINITION:#lt;br /#gt;#lt;/p#gt;#lt;p#gt;The name of a repository representing a collection of assemblies of nucleotides used to identify genetic variations.#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;EXAMPLE(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;GENBANK#lt;br /#gt;#lt;/p#gt;#lt;p#gt;Entrez Gene#lt;br /#gt;#lt;/p#gt;#lt;p#gt;OMIM#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;OTHER NAME(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;NOTE(S):#lt;br /#gt;#lt;/p#gt;
Public ST
  value
Details:
Map:PGx v1.0=PF.PFLLOQ
Map:PGx v1.0=PF.PFORREF
Notes: DEFINITION:#lt;br /#gt;#lt;/p#gt;#lt;p#gt;Reference result or expected value for the measurement or finding in the location of interest.#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;EXAMPLE(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;A, C, G, T are possible values if the test is Nucleotide#lt;br /#gt;#lt;/p#gt;#lt;p#gt;Ile, Trp, Gyl, Ser are possible values if the test is Amino Acid#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;OTHER NAME(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;NOTE(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;The type of values represented by this attribute corresponds to the kind of test being performed.#lt;br /#gt;#lt;/p#gt;
Public CD
  referenceTypeCode
Details:
Map:PGx v1.0=PF.PFLLOQ
Notes: DEFINITION:#lt;br /#gt;#lt;/p#gt;#lt;p#gt;A coded value specifying the kind of genetic reference the value is.#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;EXAMPLE(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;lower limit of quantitation#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;OTHER NAME(S):#lt;br /#gt;#lt;/p#gt;#lt;p#gt;#lt;br /#gt;#lt;/p#gt;#lt;p#gt;NOTE(S):#lt;br /#gt;#lt;/p#gt;
Element Source Role Target Role
PerformedGeneticObservationResult
Class   		Name: referencingPerformedGeneticObservationResult
  		Name: referencedGeneticReference
 
Details:
DESCRIPTION:<br /></p><p>Each PerformedGeneticObservationResult might reference one GeneticReference.  Each GeneticReference always is referenced by one or more PerformedGeneticObservationResult.<br /></p><p><br /></p><p>DEFINITION:<br /></p><p><br /></p><p>EXAMPLE(S):<br /></p><p>"A" might be the reference if the test result is a Nucleotide.<br /></p><p>"Trp" might be the reference if the test result is an Amino Acid.<br /></p><p><br /></p><p>OTHER NAME(S):<br /></p><p><br /></p><p>NOTE(S):<br /></p>
Tag Value
Map:PGx v1.0 PF.PFREFSEQ
Details: