Cancer is a disease of the genome and the epigenome. Previous studies have shown that genomic changes such as mutations, copy number variation, and genomic rearrangements drive cancer evolution. In this issue of Cancer Cell, Landau and colleagues add epigenomic changes, specifically locally disordered DNA methylation, to cancer's evolutionary trajectory.

Switchgrass (Panicum virgatum) is a polyploid, outcrossing grass species native to North America and has recently been recognized as a potential biofuel feedstock crop. Significant phenotypic variation including ploidy is present across the two primary ecotypes of switchgrass, referred to as upland and lowland switchgrass. The tetraploid switchgrass genome is approximately 1400 Mbp, split betwe...

The fine-scale structure of the majority of copy number variation (CNV) regions remains unknown. The killer immunoglobulin receptor (KIR) gene complex exhibits significant CNV. The evolutionary plasticity of the KIRs and their broad biomedical relevance makes it important to understand how these immune receptors evolve. In this paper, we describe haplotype re-arrangement creating novel loci at ...

The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number varian...

Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions ('Subtelomeric Repeats') comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an impact on the dosage of transcripts embedded w...

results the relative expression of mtdna copy number was 3.7 fold higher in nafld patients than healthy controls (p < 0.0001). the results remained significant after adjustment for age, bmi, and gender (p = 0.02). in addition, the mtdna copy number was 4.3 (p < 0.0001) and 3.2-fold (p < 0.0001) higher in nonalcoholic fatty liver (nafl) and non-alcoholic steatohepatitis (nash) patients than heal...

Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potentially copy number polymorphic genes have been produced that are candidates for disease association. Most of the current data regarding normal genic variation, however, has been gen...