Advantages of using LRG sequences

LRG sequences:

• provide a unique stable sequence record with an ID and no versioning
• provide a coordinate system for permanent and unambiguous reporting of disease-causing variants
• are independent of updates to the reference genome assembly
• are important for bidirectional data exchange and integration
• are compiled and maintained by the EBI and NCBI and so will be maintained in perpetuity
• are integrated into the Ensembl and NCBI genome browsers to benefit from visualisation and existing annotation
• can be used as the reference sequence for HGVS nomenclature so that variant descriptions remain stable
• support legacy exon and amino acid numbering schemes
• are supported by the Mutalyzer sequence variant nomenclature checker