ARCHETYPE Repeated sequence variant (openEHR-EHR-CLUSTER.repeated_sequence_variant.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.repeated_sequence_variant.v0
ConceptRepeated sequence variant
DescriptionA sequence where, compared to a reference sequence, a segment of one or more nucleotides (the repeat unit) is present several times, one after the other.
UseThis archetype should be used inside the "Variant" SLOT of the "Genetic variant" archetype.
PurposeTo describe a repeated sequence 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: 2017-02-24
Other Details LanguageForfatternavn: Cecilia Mascia
Organisasjon: CRS4, Italy
E-post: cecilia.mascia@crs4.it
Opprinnelig skrevet dato: 2017-02-24
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=15F413BC42BA9FA023420C7008B69DC1, build_uid=d33ff0ad-0828-4e22-b405-9743643d74aa, revision=0.0.1-alpha}
Keywordsrepeated sequence, variation, genetic, genomic, variant
Lifecyclein_development
UID9b996e4e-21de-4223-8ae0-788e26afa86a
Language useden
Citeable Identifier1078.36.2199
Revision Number0.0.1-alpha
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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={context=[], state=[], capabilities=[], contacts=[], details=[], identities=[], description=[], events=[], source=[], protocol=[], items=[ResourceSimplifiedHierarchyItem [path=/items[at0001], code=at0001, itemType=ELEMENT, level=1, text=Start position, description=Position of the first nucleotide of the repeated 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 repeated 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=Repeated sequence, description=The sequence of nucleotides that has been repeated., 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[at0007], code=at0007, itemType=ELEMENT, level=1, text=Copy number, description=Number of repeat units., 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[at0008], code=at0008, 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:
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