Journal Article

An extended IUPAC nomenclature code for polymorphic nucleic acids

Andrew D. Johnson

in Bioinformatics

Volume 26, issue 10, pages 1386-1389
Published in print May 2010 | ISSN: 1367-4803
Published online March 2010 | e-ISSN: 1460-2059 | DOI: http://dx.doi.org/10.1093/bioinformatics/btq098
An extended IUPAC nomenclature code for polymorphic nucleic acids

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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.

Journal Article.  2683 words.  Illustrated.

Subjects: Bioinformatics and Computational Biology

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