| ARCHETYPE ID | openEHR-EHR-CLUSTER.indel_variant.v0 |
|---|---|
| Concept | Genetic deletion-insertion variant |
| Description | A genetic 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. |
| Use | Use to record the findings for a deletion-insertion variant observed in a genetic sequence according to the HGVS nomenclature. This archetype has been specifically designed to be used in the 'Genomic variant' SLOT within the CLUSTER.genetic_variant archetype, but can also be used within other ENTRY or CLUSTER archetypes, where clinically appropriate. |
| Purpose | To record the findings for a deletion-insertion variant observed in a genetic sequence according to the HGVS nomenclature. |
| 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. |
| 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 | indel, variation, genetic, genomic, variant, delins |
| Lifecycle | in_development |
| UID | 37861b73-ad64-4599-9999-0211b2ce59ac |
| Language used | en |
| Citeable Identifier | 1013.1.2343 |
| Revision Number | 0.0.1-alpha |
| items | |
| Start position | Start position: Position of the deleted nucleotide or the first nucleotide of the deleted range. |
| End position | End position: Position of the last nucleotide of the deleted range. |
| Deleted nucleotide(s) | Deleted nucleotide(s): The deleted nucleotide or sequence. |
| Inserted nucleotide(s) | Inserted nucleotide(s): The sequence inserted. |
| 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 | Vebjørn Arntzen, Oslo University Hospital, Norway (openEHR Editor) Silje Ljosland Bakke, Helse Vest IKT AS, Norway (openEHR Editor) SB Bhattacharyya, Sudisa Consultancy Services, India Francesca Frexia, CRS4 - Center for advanced studies, research and development in Sardinia, Italy Gideon Giacomelli, Charité Berlin, Germany Heather Grain, Llewelyn Grain Informatics, Australia Evelyn Hovenga, EJSH Consulting, Australia Christina Jaeger-Schmidt, Heidelberg University Hospital, Germany Florian Kaercher, Charité Berlin, Germany 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 Natalia Strauch, Medizinische Hochschule Hannover, Germany Aurelie Tomczak, Uniklinikum Heidelberg, Germany Paolo Uva, CRS4, Italy Gianluigi Zanetti, CRS4, Italy |
| Translators |
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