Journal
NATURE REVIEWS GENETICS
Volume 16, Issue 3, Pages 172-183Publisher
NATURE PORTFOLIO
DOI: 10.1038/nrg3871
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Funding
- Genome Canada
- Ontario Genomics Institute
- Canada Foundation of Innovation
- Canadian Institute for Advanced Research
- government of Ontario
- Canadian Institutes of Health Research (CIHR)
- Hospital for Sick Children
- University of Toronto McLaughlin Centre
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A major contribution to the genome variability among individuals comes from deletions and duplications - collectively termed copy number variations (CNVs) - which alter the diploid status of DNA. These alterations may have no phenotypic effect, account for adaptive traits or can underlie disease. We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV map of the human genome. Depending on the level of stringency of the map, we estimated that 4.8-9.5% of the genome contributes to CNV and found approximately 100 genes that can be completely deleted without producing apparent phenotypic consequences. This map will aid the interpretation of new CNV findings for both clinical and research applications.
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