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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.

Contact

johnsonad2@nhlbi.nih.gov

Supplementary information

Supplementary data are available at Bioinformatics online.

SUBMITTER: Johnson AD

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

REPOSITORIES: biostudies-literature

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An extended IUPAC nomenclature code for polymorphic nucleic acids.

Johnson Andrew D AD

Bioinformatics (Oxford, England) 20100303 10

<h4>Unlabelled</h4>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 nome ...[more]

PMID: 20202974

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