Methods for identifying DNA copy number changes
Patent Information
- Authority / Receiving Office
- US ยท United States
- Patent Type
- Applications(United States)
- Current Assignee / Owner
- AFFYMETRIX INC
- Publication Date
- 2005-03-24
- Estimated Expiration
- Not applicable ยท inactive patent
Smart Images

Figure 1 
Figure 2 
Figure 3
Abstract
Description
FIELD OF THE INVENTION The invention is related to methods of estimating the number of copies of a genomic region that are present in a sample. Specifically, this invention provides methods, computer software products and systems for the detection of regions of chromosomal amplification and deletion from a biological sample. BACKGROUND OF THE INVENTION The underlying progression of genetic events which transform a normal cell into a cancer cell is characterized by a shift from the diploid to anueploid state (Albertson et al. (2003), Nat Genet, Vol. 34, pp.369-76 and Lengauer et al. (1998), Nature, Vol. 396, pp.643-9). As a result of genomic instability, cancer cells accumulate both random and causal alterations at multiple levels from point mutations to whole-chromosome aberrations. DNA copy number changes include, but are not limited to, loss of heterozygosity (LOH) and homozygous deletions, which can result in the loss of tumor suppressor genes, and gene amplification events, wh...