copy number variation

Common copy number variation doesn't explain much complex disease risk - but why not?

User Image dgmacarthur | March 31, 2010
Wellcome Trust Case Control Consortium. (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls Nature, 464 (7289), 713-720 DOI: 10.1038/nature08979 The Wellcome Trust Case Control Consortium has just published the results of a massive survey of common, large DNA duplications and deletions (collectively termed copy number variation, or CNVs) in 16,000 patients suffering from complex diseases and 3,000 controls. The results come as no surprise, but are nonetheless disappointing: the study identified absolutely no novel CNVs…

Large-scale differences in human genomes

User Image dgmacarthur | April 12, 2009
Razib points me to a great plain-language article reviewing our current scientific understanding of human genetic variation. The major focus is on copy-number variants (CNVs) - genetic variants involving the insertion or deletion of large chunks of DNA, sometimes spanning over a million bases. These large-scale variants lurked essentially unknown within the human genome until the recent advent of chip-based platforms, which make it possible to very rapidly assay almost the entire genome for their presence. Such surveys have revealed that large-scale CNVs are far more common than anyone…