Published online 24 February 2005
Methods Online |
Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS
SEQUENOM Inc. 3595 John Hopkins Court, San Diego, CA 92121, USA 1AG Genominformatik, Technische Fakultät, Universität Bielefeld PF 100131, 33501 Bielefeld, Germany
*To whom correspondence should be addressed. Tel: +1 858 202 9066; Fax: +1 858 202 9084; Email: dvandenboom{at}sequenom.com
Received January 20, 2005. Accepted February 4, 2005.
The completion of the Human Genome Project provides researchers with a reference sequence that covers about 99% of the gene-containing regions and is more than 99.9% accurate. Sequence drafts and completed sequences for several other species are also available to researchers worldwide. The ongoing effort to provide more and more genomic reference information now enables the detection of deviations from this ‘genetic blueprint’. Comparative sequencing projects will play a major role in elucidating the meaning of the genetic code and in establishing a correlation between genotype and phenotype. As part of this effort, a number of projects will focus on distinct functional aspects, like resequencing of exons or HLA determining regions. Typically these target regions are short in length and their analysis does not require long read length. To find an efficient solution for these applications, we developed a novel method that allows simultaneous analysis of multiple independent target regions (Multiplexed Comparative Sequence Analysis) by employing base-specific cleavage biochemistry and MALDI TOF-MS analysis.
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