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.
  • 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.
  • 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 HGS 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, 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.
• McGowan-Jordan J, Simons A, Schmid M (2016). An International System for Human Cytogenomic Nomenclature (2016).
  NOTE: linked to proposal 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 Proposal SVD-WG005

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