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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Major copy proportion analysis of tumor samples using SNP arrays

Cheng Li1, Rameen Beroukhim, Barbara A Weir

  • 1Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute and Harvard School of Public Health, 3 Blackfan Circle, Boston, MA 02115, USA. cli@hsph.harvard.edu

BMC Bioinformatics
|April 23, 2008
PubMed
Summary

Major copy proportion (MCP) analysis improves upon loss-of-heterozygosity (LOH) analysis for SNP array data, offering better insights into allelic imbalance and copy numbers, especially in contaminated samples.

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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...