Published online 28 November 2005
Methods Online |
Allele quantification using molecular inversion probes (MIP)
ParAllele BioScience 7300 Shoreline Boulevard, South San Francisco, CA 94080, USA 1Stanford Genome Technology Center 855 California Avenue, Palo Alto, CA 94304, USA
*To whom correspondence should be addressed. Tel: +1 650 228 7405; Fax: +1 650 228 7437; Email: Malek{at}p-gene.com
Received July 22, 2005. Revised October 25, 2005. Accepted October 25, 2005.
Detection of genomic copy number changes has been an important research area, especially in cancer. Several high-throughput technologies have been developed to detect these changes. Features that are important for the utility of technologies assessing copy number changes include the ability to interrogate regions of interest at the desired density as well as the ability to differentiate the two homologs. In addition, assessing formaldehyde fixed and paraffin embedded (FFPE) samples allows the utilization of the vast majority of cancer samples. To address these points we demonstrate the use of molecular inversion probe (MIP) technology to the study of copy number. MIP is a high-throughput genotyping technology capable of interrogating >20 000 single nucleotide polymorphisms in the same tube. We have shown the ability of MIP at this multiplex level to provide copy number measurements while obtaining the allele information. In addition we have demonstrated a proof of principle for copy number analysis in FFPE samples.
The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors
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