Abstract
A new protocol for using molecular inversion probes to specifically and accurately measure allele copy numbers.
Highlights
Chromosomal copy number analysis has been important in the study of tumor samples for decades
We describe the performance of the molecular inversion probe (MIP) assay using several types of metrics that are broadly useful to all copy number assays: the ability to discriminate a copy number aberration from normal at the total as well as allele copy number (ACN) level; and the ability to accurately quantify the level of copy number aberration at both the total and ACN levels
Assess reproducibility, we analyzed all samples in duplicate and calculated concordance estimates for the various genotypes (Table 4). We describe in this manuscript significant improvements we have made to the MIP-based measurements of ACN
Summary
Chromosomal copy number analysis has been important in the study of tumor samples for decades. In order to fulfill this promise, technologies that are able to assess copy number on the whole genome scale in a large number of samples are required. Since the development of comparative genomic hybridization (CGH) [2], many technologies have been developed to address this need. These include bacterial artificial chromosome (BAC) CGH and, more recently, CGH employing several types of oligonucleotides arrays [3,4,5,6,7]. The utility of measurement of allele copy number (ACN) includes the identification of loss of heterozygosity (LOH) events [4] and the allelic composition at amplified loci [9]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
