ARCHETYPE Duplication variant (openEHR-EHR-CLUSTER.duplication_variant.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.duplication_variant.v0
ConceptDuplication variant
DescriptionA sequence change where, compared to a reference sequence, a copy of one or more nucleotides are inserted directly 3' of the original copy of that sequence.
UseThis archetype should be used inside the "Variant" SLOT of the "Genetic variant" archetype.
PurposeTo describe a duplication variant observed in a sequence according to the HGVS nomenclature.
References"Den Dunnen et al. (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum.Mutat. 25: 37: 564-569"
Copyright© openEHR Foundation
AuthorsForfatternavn: Cecilia Mascia
Organisasjon: CRS4, Italy
E-post: cecilia.mascia@crs4.it
Opprinnelig skrevet dato: 2017-02-23
Other Details LanguageForfatternavn: Cecilia Mascia
Organisasjon: CRS4, Italy
E-post: cecilia.mascia@crs4.it
Opprinnelig skrevet dato: 2017-02-23
OtherDetails Language Independent{licence=This work is licensed under the Creative Commons Attribution-ShareAlike 3.0 License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/3.0/., custodian_organisation=openEHR Foundation, references="Den Dunnen et al. (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum.Mutat. 25: 37: 564-569", original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=F882099E1F4B2C5261E3A2239C5D29A5, build_uid=61f9ba13-ec81-469f-b54d-f3413facc267, revision=0.0.1-alpha}
Keywordsduplication, variaition, genetic, genomic
Lifecyclein_development
UIDe76585ad-91b9-4949-bf31-bc40a4021cb4
Language useden
Citeable Identifier1078.36.2203
Revision Number0.0.1-alpha
AllArchetype [runtimeNameConstraintForConceptName=null, archetypeConceptBinding=null, archetypeConceptDescription=A sequence change where, compared to a reference sequence, a copy of one or more nucleotides are inserted directly 3' of the original copy of that sequence., archetypeConceptComment=null, otherContributors=Christina Jaeger-Schmidt, Heidelberg University Hospital, Germany
Florian Kaercher, Charité Berlin, Germany
Francesca Frexia, CRS4, Italy
Gianluigi Zanetti, CRS4, Italy
Heather Leslie, Atomica Informatics, Australia (openEHR Editor)
Gideon Giacomelli, Charité Berlin, Germany
Paolo Uva, CRS4, Italy
Silje Ljosland Bakke, Nasjonal IKT HF, Norway (openEHR Editor)
Simon Schumacher, HiGHmed, Germany, originalLanguage=en, translators=, subjectOfData=ubegrenset, archetypeTranslationTree=null, topLevelToAshis={events=[], items=[ResourceSimplifiedHierarchyItem [path=/items[at0001], code=at0001, itemType=ELEMENT, level=1, text=Start position, description=Position of the duplicated nucleotide or the first nucleotide of the duplicated range., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Obligatorisk, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0003], code=at0003, itemType=ELEMENT, level=1, text=End position, description=Position of the last nucleotide of the duplicated range., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0005], code=at0005, itemType=ELEMENT, level=1, text=Duplicated nucletide(s), description=The nucleotide or the sequence duplicated., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0006], code=at0006, itemType=SLOT, level=1, text=Reference sequence, description=The sequence file that has been used as a reference to describe the variant., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Valgfritt, gjentagende, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=Inkluder:
openEHR-EHR-CLUSTER.Reference_sequence.v0, extendedValues=null]], content=[], capabilities=[], activities=[], description=[], identities=[], state=[], protocol=[], context=[], data=[], provider=[], details=[], target=[], contacts=[], ism_transition=[], source=[], relationships=[], credentials=[], other_participations=[]}, topLevelItems={items=ResourceSimplifiedHierarchyItem [path=ROOT_/, code=at0000, itemType=CLUSTER, level=0, text=null, description=null, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Obligatorisk, cardinalityFormal=1..*, cardinalityText=bestilt, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=null, extendedValues=null]}, addHierarchyItemsTo=items, currentHierarchyItemsForAdding=[ResourceSimplifiedHierarchyItem [path=/items[at0001], code=at0001, itemType=ELEMENT, level=1, text=Start position, description=Position of the duplicated nucleotide or the first nucleotide of the duplicated range., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Obligatorisk, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0003], code=at0003, itemType=ELEMENT, level=1, text=End position, description=Position of the last nucleotide of the duplicated range., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0005], code=at0005, itemType=ELEMENT, level=1, text=Duplicated nucletide(s), description=The nucleotide or the sequence duplicated., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0006], code=at0006, itemType=SLOT, level=1, text=Reference sequence, description=The sequence file that has been used as a reference to describe the variant., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Valgfritt, gjentagende, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=Inkluder:
openEHR-EHR-CLUSTER.Reference_sequence.v0, extendedValues=null]], minIndents={}, termBindingRetrievalErrorMessage=null]