Bioinformatics. 2010 May 15;26(10):1386-9. doi: 10.1093/bioinformatics/btq098. Epub 2010 Mar 3.
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.
Supplementary data are available at Bioinformatics online.
国际纯粹与应用化学联合会（IUPAC）近 25 年前指定的规范为不完全指定的核酸提供了命名法。然而，目前尚无系统可以在单个指定字符或字符串中表示多态核酸（例如单核苷酸多态性）的相对丰度。在这里，我提议将这种信息代码作为 IUPAC 命名法代码的自然扩展，并介绍这种代码的一些潜在用途和限制。这种扩展命名法代码的主要预期用途是协助表示人类遗传变异中快速增长的信息空间。
补充数据可在“生物信息学在线”上获得。
