ARCHETYPE Indel variant (openEHR-EHR-CLUSTER.indel_variant.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.indel_variant.v0
ConceptIndel variant
DescriptionA sequence change where, compared to a reference sequence, one or more nucleotides are replaced by one or more other nucleotides and which is not a substitution, inversion or conversion.
UseThis archetype should be used inside the "Variant" SLOT of the "Genetic variant" archetype.
PurposeTo describe an indel 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=A80A4CD9AB205D755443ADF4F24403C1, build_uid=157ccd5b-0ba7-4d74-8b64-562eed1af1ce, revision=0.0.1-alpha}
Keywordsindel, variation, genetic, genomic, variant
Lifecyclein_development
UIDe72f9e8f-4c1f-49e8-8437-6232e65ab516
Language useden
Citeable Identifier1078.36.2196
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)
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