: Public Class
Created: 3/4/2015 2:49:00 PM
Modified: 7/3/2019 8:13:29 PM
Project:
Advanced:
DEFINITION:<br/>An assembly of nucleotides used to identify genetic variations.<br/><br/>EXAMPLE(S):<br/>Different versions of genomic references exist for many species. For example, Homo sapiens reference genome utilized by the UCSC Genome Browser hg38 was released in 2013 and hg19 in 2009. Older versions of the assembled reference include, but are not limited to, hg18.<br/><br/>OTHER NAME(S):<br/>Reference Sequence ID for a sequence in a database<br/><br/>NOTE(S):<br/>
Attribute
Public ST
  sequenceIdentifier
Details:
Map:PGx v1.0=PF.PFREFSEQ
Notes: DEFINITION:<br/>A unique identifier, within a specified database, representing an assembly of nucleotides used to identify a genetic variation.<br/><br/>EXAMPLE(S):<br/>NP_751919 is an identifier in GENBANK<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>The genetic variation may be documented <font color="#0f0f0f">and versioned</font> in a public database or in the protocol document.<br/>
Public ST
  sequenceDatabase
Details:
Map:PGx v1.0=PF.PFREFSEQ
Notes: DEFINITION:<br/>The name of a repository representing a collection of assemblies of nucleotides used to identify genetic variations.<br/><br/>EXAMPLE(S):<br/>GENBANK<br/>Entrez Gene<br/>OMIM<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Public ST
  value
Details:
Map:PGx v1.0=PF.PFLLOQ
Map:PGx v1.0=PF.PFORREF
Notes: DEFINITION:<br/>Reference result or expected value for the measurement or finding in the location of interest.<br/><br/>EXAMPLE(S):<br/>A, C, G, T are possible values if the test is Nucleotide<br/>Ile, Trp, Gyl, Ser are possible values if the test is Amino Acid<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>The type of values represented by this attribute corresponds to the kind of test being performed.<br/>
Public CD
  referenceTypeCode
Details:
Map:PGx v1.0=PF.PFLLOQ
Notes: DEFINITION:<br/>A coded value specifying the kind of genetic reference the value is.<br/><br/>EXAMPLE(S):<br/>lower limit of quantitation<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Element Source Role Target Role
PerformedGeneticObservationResult
Class   		Name: referencingPerformedGeneticObservationResult
  		Name: referencedGeneticReference
 
Details:
DESCRIPTION:<br/>Each PerformedGeneticObservationResult might reference one GeneticReference.  Each GeneticReference always is referenced by one or more PerformedGeneticObservationResult.<br/><br/>DEFINITION:<br/><br/>EXAMPLE(S):<br/>"A" might be the reference if the test result is a Nucleotide.<br/>"Trp" might be the reference if the test result is an Amino Acid.<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Tag Value
Map:PGx v1.0 PF.PFREFSEQ
Details: