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Software for CNV analysis using Affymetrix SNP arrays

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.
Investigation of changes in gene copy number is an important factor in the determination of the mechanism of cancer. This is a relatively new field, with a number of software based methods for finding copy number variants (CNVs). We have published in journal BMC bioinformatics a comparison of three commonly used methods, evaluating them with a fourth method developed here at the GSC. Intuitive statistical metrics from our protocol allow evaluation of the other procedures against a common statistic.

Full Citation

Baross A, Delaney AD, Li HI, Nayar T, Flibotte S, Qian H, Chan SY, Asano J, Ally A,
Cao M, Birch P, Brown-John M, Fernandes N, Go A, Kennedy G, Langlois S, Eydoux P, Friedman JM and Marra M.  BMC Bioinformatics 2007. 8:368.



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