Repeat sequences — mainly transposable elements — have been estimated to comprise ~50% of the human genome. Typical approaches for identifying repeats are based on finding sequence similarity to a single consensus sequence for each repeat type. These authors re-examined the human genome using an algorithm that instead relies on relatedness within entire groups of evolutionarily diverged repeats. This led them to an increased estimate of 66–69% for the proportion of repeat-derived sequence in the human genome, after correcting for false positives. These results imply that repetitive DNA may have played a larger part in human evolution than was previously assumed.
ORIGINAL RESEARCH PAPER
de Koning, A. P. et al. Repetitive elements may comprise over two-thirds of the human genome. PLoS Genet. 7, e1002384 (2011)Article
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Burgess, D. Repetitive elements underestimated?. Nat Rev Genet 13, 74 (2012). https://doi.org/10.1038/nrg3172
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DOI: https://doi.org/10.1038/nrg3172