obsolete contextual allele [GENO_0000891]
An informational artifact that describes a canonical allele by defining its sequence and position relative to a particular reference sequence. The notion of a ‘contextual allele’ derives from the ClinGen Allele model. Here, each genetic allele in a patient corresponds to a single ‘canonical allele’, which in turn may aggregate any number of ‘contextual allele’ representations that are may be defined against different reference sequences. Accordingly, many contextual alleles can describe a single canonical allele. For example, the contextual alleles “NC_000013.11:g.32319070T>A” and “NG_012772.3:g.8591T>A” both describe the same underlying canonical allele, a single nucleotide variation, in the BRCA2 gene.
Note
This page displays the raw VFB json record for this term. Please use the link below to open the term inside the Virtual Fly Brain viewerOpen obsolete contextual allele in VFB
Term Information
- ID: GENO_0000891
- Name: obsolete contextual allele
- Definition: An informational artifact that describes a canonical allele by defining its sequence and position relative to a particular reference sequence.
- Synonyms:
- Type:
- Comment: The notion of a ‘contextual allele’ derives from the ClinGen Allele model. Here, each genetic allele in a patient corresponds to a single ‘canonical allele’, which in turn may aggregate any number of ‘contextual allele’ representations that are may be defined against different reference sequences. Accordingly, many contextual alleles can describe a single canonical allele. For example, the contextual alleles “NC_000013.11:g.32319070T>A” and “NG_012772.3:g.8591T>A” both describe the same underlying canonical allele, a single nucleotide variation, in the BRCA2 gene.
VFB Term Json
{
"term": {
"core": {
"iri": "http://purl.obolibrary.org/obo/GENO_0000891",
"symbol": "",
"types": [
"Entity",
"Class",
"Deprecated"
],
"short_form": "GENO_0000891",
"unique_facets": [
"Deprecated"
],
"label": "obsolete contextual allele"
},
"description": [
"An informational artifact that describes a canonical allele by defining its sequence and position relative to a particular reference sequence."
],
"comment": [
"The notion of a 'contextual allele' derives from the ClinGen Allele model. Here, each genetic allele in a patient corresponds to a single 'canonical allele', which in turn may aggregate any number of 'contextual allele' representations that are may be defined against different reference sequences. Accordingly, many contextual alleles can describe a single canonical allele. For example, the contextual alleles \u201cNC_000013.11:g.32319070T>A\u201d and \u201cNG_012772.3:g.8591T>A\u201d both describe the same underlying canonical allele, a single nucleotide variation, in the BRCA2 gene."
]
},
"query": "Get JSON for Class",
"version": "c58c844",
"parents": [],
"relationships": [],
"related_individuals": [],
"xrefs": [],
"anatomy_channel_image": [],
"pub_syn": [],
"def_pubs": [
{
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
"Entity",
"Individual",
"pub"
],
"short_form": "Unattributed",
"unique_facets": [
"pub"
],
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
]
}
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