HGMD

Mutation Nomenclature

Biobase

In the last few years, the number of mutation reports in the literature has been greatly increasing. Along with this comes the need to describe these mutations in a consistent, accurate and uniform way. A number of attempts have been made to standardise nomenclature. Links to literature on the subject can be found below.


Reference
Journal links
Taschner PE, den Dunnen JT: Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat 32(5):507-511, 2011. PubMed Human Mutation
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE: Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29(1)6-13, 2008. PubMed Human Mutation
den Dunnen JT, Antonarakis SE: Nomenclature for the description of human sequence variations. Hum Genet 109(1):121-124, 2001. PubMed Human Genetics
den Dunnen JT, Antonarakis SE.: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15(1):7-12, 2000. PubMed Human Mutation
Antonarakis SE: Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11(1):1-3, 1998. PubMed Human Mutation
Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F: Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat 8(3):203-206, 1996. PubMed Human Mutation
Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature. Hum Mutat 8(3):197-202, 1996. PubMed  
Antonarakis SE, McKusick VA: Discussion on mutation nomenclature. Hum Mutat 4(2):166, 1994. PubMed  
Beutler E: The designation of mutations. Am J Hum Genet 53(3):783-785, 1993. PubMed  
Beaudet AL, Tsui LC: A suggested nomenclature for designating mutations. Hum Mutat 2(4):245-248, 1993. PubMed  


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