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By Melissa Lee Phillips

Genomic Alterations 2.0

How to make the most of the evolving technology for detecting copy number variants.

Between missing chunks of chromosomes and single nucleotide polymorphisms (SNPs) lies a vast middle ground of genomic alterations. Among these are copynumber variations (CNVs) - the differences between individuals in the number of copies of a genomic region. "The total nucleotide content that is encompassed by CNVs most certainly exceeds that of SNPs," says Stephen Scherer of The Hospital for Sick Children in Toronto.



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