Biology – Quantitative Biology – Genomics
Scientific paper
2009-09-16
BMC Bioinformatics, 10(suppl 1):S67 (2009)
Biology
Quantitative Biology
Genomics
Scientific paper
Background: Regions with copy number variations (in germline cells) or copy number alteration (in somatic cells) are of great interest for human disease gene mapping and cancer studies. They represent a new type of mutation and are larger-scaled than the single nucleotide polymorphisms. Using genotyping microarray for copy number variation detection has become standard, and there is a need for improving analysis methods. Results: We apply the cumulative plot to the detection of regions with copy number variation/alteration, on samples taken from a chronic lymphocytic leukemia patient. Two sets of whole-genome genotyping of 317k single nucleotide polymorphisms, one from the normal cell and another from the cancer cell, are analyzed. We demonstrate the utility of cumulative plot in detecting a 9Mb (9 x 10^6 bases) hemizygous deletion and 1Mb homozygous deletion on chromosome 13. We also show the possibility to detect smaller copy number variation/alteration regions below the 100kb range. Conclusions: As a graphic tool, the cumulative plot is an intuitive and a scale-free (window-less) way for detecting copy number variation/alteration regions, especially when such regions are small.
Gregersen Peter K.
Lee Annette
Li Wentian
No associations
LandOfFree
Copy-number-variation and copy-number-alteration region detection by cumulative plots does not yet have a rating. At this time, there are no reviews or comments for this scientific paper.
If you have personal experience with Copy-number-variation and copy-number-alteration region detection by cumulative plots, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Copy-number-variation and copy-number-alteration region detection by cumulative plots will most certainly appreciate the feedback.
Profile ID: LFWR-SCP-O-389940