Scope and Usage
One approach to normalization and canonicalization of alleles is to define a standard consensus sequence that will be fixed over time, and which includes all elements related to a particular gene, including exons, introns, and regulatory elements. Alleles may the be defined on this fixed sequence, and mapped from it to multiple versions of the ChromosomeReferenceSequence and TranscriptReferenceSequence.
The GeneReferenceSequence manages the accessions that are provided by groups such as LRG or RefSeqGene for this purpose.
Attributes
None, beyond those provided by GenomicReferenceSequence.
Related Entities
| Relation Name | Entity Type | Cardinality |
|---|---|---|
| sequenceOf | Gene | 1 |
sequenceOf: The GeneReferenceSequence must be the sequence of exactly one Gene