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.
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© HiGHmed
AuthorsAuthor name: Cecilia Mascia
Organisation: CRS4, Italy
Email: cecilia.mascia@crs4.it
Date originally authored: 2017-02-24
Other Details LanguageAuthor name: Cecilia Mascia
Organisation: CRS4, Italy
Email: cecilia.mascia@crs4.it
Date originally authored: 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=HiGHmed, 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.highmed, original_publisher=HiGHmed, custodian_namespace=org.highmed, MD5-CAM-1.0.1=DB3AB7F13E3E4EA30FD4A382850074BF, build_uid=b0398732-a962-43b6-978f-2ba50ea08d71, revision=0.0.1-alpha}
Keywordsrepeated sequence, variation, genetic, genomic, variant
Lifecyclein_development
UID45492644-e239-411f-b7ad-3f2603c07cfb
Language useden
Citeable Identifier867.109.36
Revision Number0.0.1-alpha
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Gianluigi Zanetti, CRS4, Italy
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