ARCHETYPE Genetisk variant - Inversjon (openEHR-EHR-CLUSTER.inversion_variant.v1)

ARCHETYPE IDopenEHR-EHR-CLUSTER.inversion_variant.v1
ConceptGenetisk variant - Inversjon
DescriptionEn endring i gensekvensen hvor mer enn ett nukleotid (et DNA eller RNA-segment) er tatt ut og satt inn igjen i motsatt orientering (reversering av rekkefølgen i et kromosomsegment), sammenliknet med referansesekvensen.
Use*Use to record the details about an inversion variant of human DNA, observed in a genomic sequence. This archetype has been specifically designed to be used in the ‘Structured variant' SLOT within the CLUSTER.genetic_variant archetype, but can also be used within other ENTRY or CLUSTER archetypes, where clinically appropriate. In the examples in this archetype, lower case nucleotides are only intended to highlight the changed positions of the DNA sequence. (en)
MisuseSkal ikke brukes for å dokumentere en inversjon av et enkelt nukleotid (enkeltbaseforskjell), bruk CLUSTER.substitution_variant (Genetisk substitusjonvariant) arketypen til dette.
PurposeFor å dokumentere en inversjonsvariant funnet i en DNA- eller RNA-sekvensering, basert på HGVS nomenklaturen.
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.

Sequence Variant Nomenclature - DNA Recommendations - Inversion Variant [Internet]. Human Genome Variation Society. [2019] - [cited 2020-02-26]. Available from: https://varnomen.hgvs.org/recommendations/DNA/variant/inversion/
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. Sequence Variant Nomenclature - DNA Recommendations - Inversion Variant [Internet]. Human Genome Variation Society. [2019] - [cited 2020-02-26]. Available from: https://varnomen.hgvs.org/recommendations/DNA/variant/inversion/, original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=D397897523A7D5BF82FC4F8E89C390E6, build_uid=d77cc537-b07f-46cb-985c-e0739dd4382f, revision=1.1.1}
Keywordsinversjon, genetisk variasjon, genetikk, genom, variant, DNA, RNA, kromosom, mutasjon, nukleotid
Lifecycledeprecated
UIDee9f2fe2-e652-4324-a289-07eb3b720b89
Language usednb
Citeable Identifier1078.36.2198
Revision Number1.1.1
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Silje Ljosland Bakke, Helse Vest IKT AS, Norway (openEHR Editor)
Francesca Frexia, CRS4, Italy
Gideon Giacomelli, Charité Berlin, Germany
Christina Jaeger-Schmidt, Heidelberg University Hospital, Germany
Florian Kaercher, Charité Berlin, Germany
Liv Laugen, ​Oslo University Hospital, Norway, Norway
Heather Leslie, Atomica Informatics, Australia (openEHR Editor)
Cecilia Mascia, CRS4, Italy (openEHR Editor)
Ian McNicoll, freshEHR Clinical Informatics, United Kingdom (openEHR Editor)
Andrej Orel, Marand d.o.o., Slovenia
Simon Schumacher, HiGHmed, Germany
Aurelie Tomczak, Uniklinikum Heidelberg, Germany (openEHR Editor)
Paolo Uva, CRS4, Italy
Gianluigi Zanetti, CRS4, Italy
Gyri Aasland Gradek, Haukeland University Hospital, Norway
Asbjørg Stray-Pedersen, Oslo University Hospital, Norway
Toril Fagerheim, University Hospital of Northern Norway, Norway
Camilla F. Skjelbred, Telemark Hospital HF, Norway
Dag Erik Undlien, Oslo University Hospital, Norway
Rune Østern, St Olavs Hospital, Norway, originalLanguage=en, translators=German: Aurelie Tomczak, Institute of Pathology, University Hospital Heidelberg, Germany, au.tomczak@yahoo.com
Norwegian Bokmål: Liv Laugen, Silje Ljosland Bakke, Oslo University Hospital, Norway, Helse Vest IKT AS, liv.laugen@ous-hf.no, silje.ljosland.bakke@helse-vest-ikt.no
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