Copy Number VariationExpanding the repertoire of genetic alterations in studies of natural variation and disease

One of the most surprising findings to emerge from the analysis of the human genome has been the extent of inter-individual variation accounted for by large copy number variations (or CNVs) of genes and non-coding DNA. In fact, since the initial discoveries of genome-wide CNV in 2004, it is now... read moreknown that this previously unaccounted form of genetic variation encompasses more polymorphic base pairs in the human genome than single nucleotide differences.

Of particular interest is that CNVs have been found to be associated with the complete spectrum of possible phenotypic outcomes, from unrecognizable or inconsequential through to those that may be incompatible with life. There are numerous examples of CNVs that are involved in Mendelian and common complex disease with new ones being published each month. As such, the study of CNVs, which is currently based primarily on microarrays, is starting to pervade all molecular and clinical genetic studies and researchers are documenting these variants at an exponential pace. Similar findings are also being made in studies of animal models, and based on these observations a new discipline of genome research is emerging.

As with any new discipline, the knowledge and understanding is constantly changing. For this Henry Stewart Series we have identified twenty of the leading scientists from around the world working in the field to present their perspective of where CNV research is having impact. The topics range from technologies for discovering CNVs, to testing them in disease association studies, to their distribution and effects in populations. Moreover, as CNV detection moves more into the clinical realm, and in particular in prenatal diagnostic testing, there will be many new ethical issues arising regarding how to deliver and interpret the data.

The series of lectures is arranged to introduce the topic in its broadest context, and to present the necessary information in a manner that each successive talk is comprehensible. By the end, the viewer should have an excellent background of how the CNV field came about, where it stands now, and what impact it is expected to have in the future.