History regarding the description of sequence variants

Publications on the description of sequence variants

• 1993
  • Beaudet AL, Tsui LC (1993). A suggested nomenclature for designating mutations. Hum.Mutat. 2:245-248. DOI paper / PubMed abstract
  • Beutler E (1993). The designation of mutations. Am.J.Hum.Genet. 53:783-785. DOI paper / PubMed abstract.
• 1994
  • Antonarakis SE, McKusick VA (1994). Discussion on mutation nomenclature. Hum.Mutat. 4:166. DOI paper / PubMed abstract.
• 1996
  • Ad Hoc Committee on Mutation Nomenclature (1996). Update on nomenclature for human gene mutations. Hum.Mutat. 8:197-202. DOI paper / PubMed abstract.
  • Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F (1996). Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum.Mutat. 8:203-206. DOI paper / PubMed abstract.
• 1998
  • Antonarakis SE (1998). Recommendations for a nomenclature system for human gene mutations. Hum.Mutat. 11:1-3. DOI paper / PubMed abstract.
    Original discussion document.
• 2000
  • den Dunnen JT, Antonarakis SE (2000). Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum.Mutat. 15:7-12. DOI paper / PubMed abstract.
    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. Pubmed abstract.
• 2003
  • den Dunnen JT (2003). Mutation nomenclature. Nature Encyclopedia of the Human Genome 211-214.
• 2003
  • den Dunnen JT, Antonarakis SE (2003). Mutation nomenclature. Current Protocols in Human Genetics 7.13.1-7.13.8.
• 2004
  • den Dunnen JT, Paalman MH (2004). Standardizing mutation nomenclature: why bother?. Hum.Mutat. 22:181-182. DOI paper / PubMed abstract.
• 2011
  
  • Taschner PEM, den Dunnen JT (2011). Describing structural changes by extending HGVS sequence variation nomenclature. Hum.Mutat. 32:507-511 DOI paper / Pubmed abstract.
  • 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. DOI paper / PubMed abstract.
• 2014
  • 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. DOI paper / PubMed abstract.
• 2016
  • den Dunnen JT, Dalgelish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PEM (2016). Update: the HGVS recommendations for the description of sequence variants. Hum Mutat, submitted.