Nomenclature for describing Genomic Variation
Describing structural changes by extending HGVS sequence variation nomenclature
Peter E.M. Taschner, Johan T. den Dunnen.
Nomenclature for the description of human sequence variations
den Dunnen JT, Antonarakis SE.
Internationally recognized reference-sequence standard for reporting sequence variants. LRG sequences provide a stable genomic DNA framework for reporting mutations with a permanent ID and core content that never changes.
Human Genome Variation Society - Nomenclature recommendations
- GEN2PHEN Knowledge Centre nomenclature resources