Article
Conserved noncoding sequences are selectively constrained and not mutation cold spots.
Nature genetics - 1 Feb 2006
Drake Jared A, Bird Christine, Nemesh James, Thomas Daryl J, Newton-Cheh Christopher, Reymond Alexandre, Excoffier Laurent, Attar Homa, Antonarakis Stylianos E, Dermitzakis Emmanouil T, Hirschhorn Joel N
Abstract excerpt
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. However, CNCs could also merely represent regions with...
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