ARCHETYPE Genetic inversion variant (openEHR-EHR-CLUSTER.inversion_variant.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.inversion_variant.v0
ConceptGenetic inversion variant
DescriptionA genetic sequence change where, compared to a reference sequence, more than one nucleotide replacing the original sequence are the reverse complement of the original sequence.
UseUse to record the findings for an inversion variant observed in a genetic sequence according to the HGVS nomenclature. This archetype has been specifically designed to be used in the 'Variant' SLOT within the CLUSTER.genetic_variant archetype, but can also be used within other ENTRY or CLUSTER archetypes, where clinically appropriate.
PurposeTo record the details about an inversion variant observed in a genetic sequence according to the HGVS nomenclature.
Referencesden Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. PubMed PMID: 26931183.
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 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/., custodian_organisation=openEHR Foundation, references=den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. PubMed PMID: 26931183., original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=1A379910D2284EE0B768894DC7EE0A2B, build_uid=d5a3b6d8-8712-4dbe-a60a-45999dde521e, revision=0.0.1-alpha}
Keywordsinversion, variation, genetic, genomic, variant
Lifecyclein_development
UID31e5f83a-fea5-4ee3-9209-058f2f35e654
Language useden
Citeable Identifier1078.36.2198
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={contacts=[], source=[], ism_transition=[], description=[], protocol=[], credentials=[], target=[], data=[], content=[], other_participations=[], details=[], items=[ResourceSimplifiedHierarchyItem [path=/items[at0001], code=at0001, itemType=ELEMENT, level=1, text=Start position, description=Position of the first nucleotide of the inverted 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[at0004], code=at0004, itemType=ELEMENT, level=1, text=End position, description=Position of the last nucleotide of the inverted 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[at0006], code=at0006, itemType=ELEMENT, level=1, text=Inverted sequence, description=The nucleotide sequence of the reference sequence at th given positions., 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=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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