ARCHETYPE Referansesekvens (openEHR-EHR-CLUSTER.reference_sequence.v1)

Name: Referansesekvens
License: http://creativecommons.org/licenses/by-sa/4.0/

ARCHETYPE ID	openEHR-EHR-CLUSTER.reference_sequence.v1
Concept	Referansesekvens
Description	En sekvensfil som er brukt som en referanse for å beskrive varianter som er funnet i en analysert sekvens.
Use	Denne arketypen har blitt laget for å brukes i SLOT'et "Referansegenom" og i "Transkriptreferansesekvens" i arketypen CLUSTER.genomic_variant_result arketypen (Genetisk variant resultat) og SLOT'et "Referansesekvens" i de spesifikke genetisk variant arketypene (f.eks. CLUSTER.genomic_insertion_variant, CLUSTER.genomic_deletion_variant. osv). Den kan også brukes i andre ENTRY- eller CLUSTER-arketyper der det er klinisk hensiktsmessig.
Purpose	For å registrere detaljer om referansesekvensen som brukes for å beskrive varianter.
References	Avgrenet fra: https://ckm.openehr.org/ckm/archetypes/1013.1.3762 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.
Authors	Forfatternavn: Cecilia Mascia Organisasjon: CRS4, Italy E-post: cecilia.mascia@crs4.it Opprinnelig skrevet dato: 2017-02-08
Other Details Language	Forfatternavn: Cecilia Mascia Organisasjon: CRS4, Italy E-post: cecilia.mascia@crs4.it Opprinnelig skrevet dato: 2017-02-08
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=Avgrenet fra: https://ckm.openehr.org/ckm/archetypes/1013.1.3762 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=735A945E752C166C455FBE5341ACC3C8, build_uid=2cd2a5a8-ad90-4010-a8c9-859a1c040fea, revision=1.0.0}
Keywords	genetiske funn, referansesekvens, genetisk testing, gentester, variant, genetikk, variasjon, mutasjon, sekvensering, mutasjon
Lifecycle	published
UID	bcf5e2c5-03e5-45d0-9b0e-e67599c80a3f
Language used	nb
Citeable Identifier	1078.36.2202
Revision Number	1.0.0
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CRS4, Italy Gianluigi Zanetti, CRS4, Italy, originalLanguage=en, translators= German: Natalia Strauch, Medizinische Hochschule Hannover, Strauch.Natalia@mh-hannover.de Norwegian Bokmål: Vebjørn Arntzen, Liv Laugen,, Oslo University Hospital, varntzen@ous-hf.no, liv.laugen@ous-hf.no , subjectOfData=ubegrenset, archetypeTranslationTree=null, topLevelToAshis={items=[ResourceSimplifiedHierarchyItem [path=/items[at0048], code=at0048, itemType=ELEMENT, level=1, text=Referansegenom, description=Referansegenomet (reference assembly) som en representativ modell for det humane genomet., 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[at0019], code=at0019, itemType=ELEMENT, level=1, text=Kildenavn, description=Navnet til datakilden som inneholder den 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[Kromosom 14.] [LOINC(2.65)::LA21267-2] at0038::Kromosom 15 [Kromosom 15.] [LOINC(2.65)::LA21268-0] at0039::Kromosom 16 [Kromosom 16.] [LOINC(2.65)::LA21269-8] at0040::Kromosom 17 [Kromosom 17.] [LOINC(2.65)::LA21270-6] at0041::Kromosom 18 [Kromosom 18.] [LOINC(2.65)::LA21271-4] at0042::Kromosom 19 [Kromosom 19.] [LOINC(2.65)::LA21272-2] at0043::Kromosom 20 [Kromosom 20.] [LOINC(2.65)::LA21273-0] at0044::Kromosom 21 [Kromosom 21.] [LOINC(2.65)::LA21274-8] at0045::Kromosom 22 [Kromosom 22.] [LOINC(2.65)::LA21275-5] at0046::Kromosom X [Kromosom X.] [LOINC(2.65)::LA21276-3] at0047::Kromosom Y [Kromosom Y.] [LOINC(2.65)::LA21277-1] Fri eller kodet tekst , extendedValues=null]], content=[], state=[], other_participations=[], credentials=[], ism_transition=[], contacts=[], description=[], capabilities=[], identities=[], data=[], source=[], target=[], context=[], events=[], details=[], protocol=[], activities=[], provider=[], relationships=[]}, 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