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Letter
Nature Genetics 38, 223–227 (1 February 2006) | doi:10.1038/ng1710
Conserved noncoding sequences are selectively constrained and not mutation cold spots
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Abstract
Noncoding genetic variants are likely to influence human biology and disease, but recognizing functional noncoding variants is difficult. Approximately 3% of noncoding sequence is conserved among distantly related mammals, suggesting that these evolutionarily conserved noncoding regions (CNCs) are selectively constrained and contain functional variation.
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