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A gentle introduction to SNP analysis: resources and tools.

作者信息

Mah James T L, Chia K S

机构信息

Data Mining Department, Institute for Infocomm Research, 21 Heng Mui Keng Terrace, Singapore 119613, Singapore.

出版信息

J Bioinform Comput Biol. 2007 Oct;5(5):1123-38. doi: 10.1142/s0219720007003090.

DOI:10.1142/s0219720007003090
PMID:17933014
Abstract

Bioinformatics is the use of informatics tools and techniques in the study of molecular biology, genetic, or clinical data. The field of bioinformatics has expanded tremendously to cope with the large expansion of information generated by the mouse and human genome projects, as newer generations of computers that are much more powerful have emerged in the commercial market. It is now possible to employ the computing hardware and software at hand to generate novel methodologies in order to link data across the different databanks generated by these international projects and derive clinical and biological relevance from all of the information gathered. The ultimate goal would be to develop a computer program that can provide information correlating genes, their single nucleotide polymorphisms (SNPs), and the possible structural and functional effects on the encoded proteins with relation to known information on complex diseases with great ease and speed. Here, the recent developments of available software methods to analyze SNPs in relation to complex diseases are reviewed with emphasis on the type of predictions on protein structure and functions that can be made. The need for further development of comprehensive bioinformatics tools that can cope with information generated by the genomics communities is emphasized.

摘要

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