An extended IUPAC nomenclature code for polymorphic nucleic acids.

ABSTRACT:

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The International Union of Pure and Applied Chemistry (IUPAC) code specified nearly 25 years ago provides a nomenclature for incompletely specified nucleic acids. However, no system currently exists that allows for the informatics representation of the relative abundance at polymorphic nucleic acids (e.g. single nucleotide polymorphisms) in a single specified character, or a string of characters. Here, I propose such an information code as a natural extension to the IUPAC nomenclature code, and present some potential uses and limitations to such a code. The primary anticipated use of this extended nomenclature code is to assist in the representation of the rapidly growing space of information in human genetic variation.

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SUBMITTER: Johnson AD 

PROVIDER: S-EPMC2865858 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature