An extended IUPAC nomenclature code for polymorphic nucleic acids

Abstract

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. Published by Oxford University Press 2010. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org.