Variants for Mutation

Other than in reference to the Teenage Mutant Ninja Turtles, the anthropomorphic crime-fighting turtles who love pizza, there are few instances in which the term mutation, or any form of the word, has a positive connotation.

Because of this negative connotation and the confusion regarding the definitions of the terms mutation and polymorphism across disciplines, the Human Genome Variation Society recommends avoiding these terms.

The 11th edition of the AMA Manual of Style reinforces this recommendation, as well as the suggestion to instead use the terms sequence variant, sequence variation, alteration, or allelic variant.

In light of this recommendation, the term single-nucleotide variation (SNV) is more frequently being used than single-nucleotide polymorphism (SNP). To aid readers’ understanding during this transition, it is suggested that SNV be used at first mention, with SNP included in parentheses as follows: “…SNV (formerly SNP).” This should help authors and readers adjust to the recommended language.–Nicole FioRito

Leave a Reply

Your email address will not be published. Required fields are marked *