History

Publications on the description of sequence variants

Below, an overview of publications on the subject of sequence variant descriptions, from old to recent.

1993

• Beaudet AL, Tsui LC (1993). A suggested nomenclature for designating mutations. Hum. Mutat. 2:245-248.
• Beutler E (1993). The designation of mutations. Am. J. Hum. Genet. 53:783-785.

1994

• Antonarakis SE, McKusick VA (1994). Discussion on mutation nomenclature. Hum. Mutat. 4:166.

1996

• Ad Hoc Committee on Mutation Nomenclature (1996). Update on nomenclature for human gene mutations. Hum. Mutat. 8:197-202.
• Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F (1996). Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum. Mutat. 8:203-206.

1998

• Antonarakis SE (1998). Recommendations for a nomenclature system for human gene mutations. Hum. Mutat. 11:1-3.

2000

• 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.

2003

• 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.

2004

• Den Dunnen JT, Paalman MH (2004). Standardizing mutation nomenclature: why bother? Hum. Mutat. 22:181-182.

2011

• Taschner PEM, Den Dunnen JT (2011). Describing structural changes by extending HGVS sequence variation nomenclature. Hum. Mutat. 32:507-511.
  NOTE: this proposal has been rejected.
• 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.

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.
  NOTE: official ISCN and HGVS recommendations differ significantly from this proposal.

2015

• 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.

2016

• Den Dunnen JT, Dalgleish 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.
• McGowan-Jordan J, Simons A, Schmid M (2016). An International System for Human Cytogenomic Nomenclature (2016).
  NOTE: linked to Proposal SVD-WG003.

2018

• Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z; Nomenclature group of the European Network for Human Congenital Imprinting Disorder (2018). Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. Epigenetics 13:117-121.
  NOTE: linked to Proposal SVD-WG005.

2021

• Higgins J, Dalgleish R, den Dunnen JT, Barsh G, Freeman PJ, Cooper DN, Cullinan S, Davies KE, Dorkins H, Gong L, Imoto I, Klein TE, Korf B, Misra A, Paalman MH, Ratzel S, Reichardt JKV, Rehm HL, Tokunaga K, Weck KE, Cutting GR (2021). Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals. Hum. Mutat. 42:3-7.

2024

• Freeman PJ, Wagstaff JF, Fokkema IFAC, Cutting GR, Rehm HL, Davies AC, den Dunnen JT, Gretton LJ, Dalgleish R (2024). Standardizing variant naming in literature with VariantValidator to increase diagnostic rates. Nat. Genet. 56:2284-2286.
• Hart RK, Fokkema IFAC, DiStefano M, Hastings R, Laros JFJ, Taylor R, Wagner AH, den Dunnen JT (2024). HGVS Nomenclature 2024: improvements to community engagement, usability, and computability. Genome Med. 16:149.