Locus Reference Genomic Sequences (LRG) - HL7 Terminology (THO) v6.1.0

HL7 Terminology (THO)
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HL7 Terminology (THO), published by HL7 International - Vocabulary Work Group. This guide is not an authorized publication; it is the continuous build for version 6.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/UTG/ and changes regularly. See the Directory of published versions

NamingSystem: Locus Reference Genomic Sequences (LRG)

Official URL: http://terminology.hl7.org/NamingSystem/v3-lrg				Version: 2.1.0
Retired as of 2021-11-09			Responsible: HL7	Computable Name: Lrg

In collaboration with NCBI, the European Bioinformatics Institute (EBI) is developing the Locus Reference Genomic Sequences (LRG) database, which is a database of reference sequences.

LRG is a system for providing a genomic DNA sequence representation of a single gene that is idealized, has a permanent ID (with no versioning), and core content that never changes. LRG is not a nomenclature system. More than one LRG could be created for a region of interest, should that need arise. Additional annotations will be present that may change with time (each item carrying its own date stamp), so that the latest ancillary knowledge about a gene is directly available. In other words, an LRG sequence and its core annotation are not meant to represent current biology knowledge, but to provide a standard for reporting variation in a stable coordinate system. The combination of the LRG plus the updatable-annotation layer will be used to support the biological interpretation of variants.

LRG identifiers can be used with the HL7 coded data type (code data type that accepts expression data, or a coded expression data type). This coded data type will be gene symbols can be used with the HL7 coded data type. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, LRG identifiers can be used to as the observation values for Genomic Reference Sequence Identifier (LOINC code: 48013-7).

LRG is a database that can be used freely by the public.

Generated Narrative: NamingSystem v3-lrg

Summary

Defining URL

http://terminology.hl7.org/NamingSystem/v3-lrg

Version

2.1.0

Name

Lrg

Title

Locus Reference Genomic Sequences (LRG)

Status

retired

Definition

In collaboration with NCBI, the European Bioinformatics Institute (EBI) is developing the Locus Reference Genomic Sequences (LRG) database, which is a database of reference sequences.

LRG is a system for providing a genomic DNA sequence representation of a single gene that is idealized, has a permanent ID (with no versioning), and core content that never changes. LRG is not a nomenclature system. More than one LRG could be created for a region of interest, should that need arise. Additional annotations will be present that may change with time (each item carrying its own date stamp), so that the latest ancillary knowledge about a gene is directly available. In other words, an LRG sequence and its core annotation are not meant to represent current biology knowledge, but to provide a standard for reporting variation in a stable coordinate system. The combination of the LRG plus the updatable-annotation layer will be used to support the biological interpretation of variants.

LRG identifiers can be used with the HL7 coded data type (code data type that accepts expression data, or a coded expression data type). This coded data type will be gene symbols can be used with the HL7 coded data type. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, LRG identifiers can be used to as the observation values for Genomic Reference Sequence Identifier (LOINC code: 48013-7).

LRG is a database that can be used freely by the public.

Publisher

HL7