Detection of large-scale copy number variations in the human genome

Charles Lee

Assistant Professor, Harvard Medical School; Assistant Director of Cytogenetics, Dana Farber / Harvard Cancer Center

e-mail: clee@rics.bwh.harvard.edu

Recent discoveries demonstrate that the genomes of most humans contain dozens-hundreds of large-scale copy number variants (LCVs) contributing to their genetic makeup.  Together, these LCVs may represent as much as a ten fold increase in human genetic variation than single nucleotide polymorphisms (SNPs).  This previously unappreciated large-scale genomic heterogeneity argues for a more dynamic impression of the structure of the human genome.  Further studies may yield evidence for whether these regions are associated with disease-associated rearrangements or account for genetic differences in susceptibility to diseases or reaction to specific environmental stimuli.