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Below an overview of publications on the subject of sequence variant descriptions, from old to recent.
- Beaudet AL, Tsui LC (1993). A suggested nomenclature for designating mutations. Hum. Mutat. 2:245-248{:target="_blank"}.
- Beutler E (1993). The designation of mutations. Am. J. Hum. Genet. 53:783-785{:target="_blank"}.
- Antonarakis SE, McKusick VA (1994). Discussion on mutation nomenclature. Hum. Mutat. 4:166{:target="_blank"}.
- Ad Hoc Committee on Mutation Nomenclature (1996). Update on nomenclature for human gene mutations. Hum. Mutat. 8:197-202{:target="_blank"}.
- Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F (1996). Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum. Mutat. 8:203-206.
- Antonarakis SE (1998). Recommendations for a nomenclature system for human gene mutations. Hum. Mutat. 11:1-3.
- Den Dunnen JT, Antonarakis SE (2000). Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat. 15:7-12.
- A modified version of this paper was published as; Den Dunnen JT, Antonarakis SE (2001). Nomenclature for the description of human sequence variations. Hum. Genet. 109:121-124{:target="_blank"}.
- Den Dunnen JT (2003). Mutation nomenclature. Nature Encyclopedia of the Human Genome 211-214.
- Den Dunnen JT, Antonarakis SE (2003). Mutation nomenclature. Current Protocols in Human Genetics. 7.13.1-7.13.8{:target="_blank"}.
- Den Dunnen JT, Paalman MH (2004). Standardizing mutation nomenclature: why bother? Hum. Mutat. 22:181-182{:target="_blank"}.
- Taschner PEM, Den Dunnen JT (2011). Describing structural changes by extending HGVS sequence variation nomenclature. Hum. Mutat. 32:507-511.
- Laros JF, Blavier A, Den Dunnen JT, Taschner PE (2011). A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. BMC Bioinformatics 12 Suppl 4:S5{:target="_blank"}.
- Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC (2014). Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am. J. Hum. Genet. 94:695-670{:target="_blank"}.
- Münz M, Ruark E, Renwick A, Ramsay E, Clarke M, Mahamdallie S, Cloke V, Seal S, Strydom A, Lunter G, Rahman N (2015). CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. Genome Med. 7:76{:target="_blank"}.
- Den Dunnen JT, Dalgelish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PEM (2016). HGVS recommendations for the description of sequence variants: 2016 update. Hum. Mutat. 37:564-569{:target="_blank"}.