tailieunhanh - Báo cáo y học: "Functional constraint and small insertions and deletions in the ENCODE regions of the human genome"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Functional constraint and small insertions and deletions in the ENCODE regions of the human genome. | Open Access Research Functional constraint and small insertions and deletions in the ENCODE regions of the human genome Taane G Clark Toby Andrew Gregory M Cooper Elliott H Margulies James C Mullikin and David J Balding Addresses Department of Epidemiology and Public Health Imperial College Norfolk Place London W2 1PG UK. Department of Genetics Stanford University Stanford California 94305 USA. National Human Genome Research Institute National Institutes of Health 9000 Rockville Pike Bethesda Maryland 20892 USA. n These authors contributed equally to this work. Correspondence Taane G Clark. Email Published 4 September 2007 Genome Biology 2007 8 R180 doi gb-2007-8-9-rl 80 The electronic version of this article is the complete one and can be found online at http 2007 8 9 R180 Received 15 November 2006 Revised 4 September 2007 Accepted 4 September 2007 2007 Clark et al licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. 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. Results Indel rates are observed to be reduced approximately 20-fold to 60-fold in exonic regions 5-fold to l0-fold in sequence that exhibits high evolutionary constraint in mammals and up to 2-fold in some classes of regulatory elements for instance formaldehyde assisted isolation of regulatory elements FAIRE and hypersensitive sites . In addition some noncoding transcription and other chromatin mediated .