Article
Functional constraint and small insertions and deletions in the ENCODE regions of the human genome.
Genome biology - 1 Jan 2007
Clark Taane G, Andrew Toby, Cooper Gregory M, Margulies Elliott H, Mullikin James C, Balding David J
Abstract excerpt
BACKGROUND: We describe the distribution of indels in the 44 Encyclopedia of DNA Elements (ENCODE) regions (about 1% of the human genome) and evaluate the potential contributions of small insertion and deletion polymorphisms (indels) to human genetic variation. We relate indels to known genomic annotation features and measures of evolutionary constraint. RESULTS: Indel rates are observed to be reduced...
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