Functional constraint and small insertions and deletions in the ENCODE regions of the human genome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Functional constraint and small insertions and deletions in the ENCODE regions of the human genome

Authors:	Taane G Clark Toby Andrew Gregory M Cooper Elliott H Margulies James C Mullikin David J Balding

Institution:	(1) Department of Epidemiology and Public Health, Imperial College, Norfolk Place, London, W2 1PG, UK;(2) Department of Genetics, Stanford University, Stanford, California 94305, USA;(3) National Human Genome Research Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland 20892, USA

Abstract:	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.

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