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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Author(s) -
Dunnen Johan T. den,
Antonarakis Stylianos E.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n
Subject(s) - biology , genetics , nomenclature , mutation , gene nomenclature , genome , human genome , medical genetics , computational biology , gene , taxonomy (biology) , botany
Consistent gene mutation nomenclature is essential for efficient and accurate reporting, testing, and curation of the growing number of disease mutations and useful polymorphisms being discovered in the human genome. While a codified mutation nomenclature system for simple DNA lesions has now been adopted broadly by the medical genetics community, it is inherently difficult to represent complex mutations in a unified manner. In this article, suggestions are presented for reporting just such complex mutations. Hum Mutat 15:7–12, 2000. © 2000 Wiley‐Liss, Inc.