| ARCHETYPE ID | openEHR-EHR-CLUSTER.conversion_variant.v0 |
|---|---|
| Concept | Conversion variant |
| Description | A sequence change where, compared to a reference sequence, a range of nucleotides are replaced by a sequence from elsewhere in the genome. |
| Use | This archetype should be used inside the "Variant" SLOT of the "Genetic variant" archetype. |
| Purpose | To describe a conversion 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 |
| Authors | Author name: Cecilia Mascia Organisation: CRS4, Italy Email: cecilia.mascia@crs4.it Date originally authored: 2017-02-24 |
| Other Details Language | Author name: Cecilia Mascia Organisation: CRS4, Italy Email: cecilia.mascia@crs4.it Date originally authored: 2017-02-24 |
| Other Details (Language Independent) |
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| Keywords | conversion, variation, genetic, genomic, variant |
| Lifecycle | in_development |
| UID | 02954af9-9624-4067-b655-94369903aa48 |
| Language used | en |
| Citeable Identifier | 1013.1.2338 |
| Revision Number | 0.0.1-alpha |
| items | |
| Start converted position | Start converted position: The position of the first nucleotide of the converted range. |
| End converted position | End converted position: The position of the last nucleotide of the converted range. |
| Replacing sequence start position | Replacing sequence start position: The position of the first nucleotide of the replacing sequence. |
| Replacing sequence end position | Replacing sequence end position: The position of the last nucleotide of the replacing sequence. |
| Reference sequence | Reference sequence: The sequence file that has been used as a reference to describe the variant. Include: openEHR-EHR-CLUSTER.reference_ |
| Other contributors | Christina Jaeger-Schmidt, Heidelberg University Hospital, Germany 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 |
| Translators |
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