Sökning: WFRF:(Rounsley Steven) > (2006) > Analysis of the DNA...
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000 | 06556naa a2201153 4500 | |
001 | oai:DiVA.org:uu-108245 | |
003 | SwePub | |
008 | 090909s2006 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1082452 URI |
024 | 7 | a https://doi.org/10.1038/nature046012 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Zody, Michael,d 1968-u Broad Institute4 aut0 (Swepub:uu)miczo266 |
245 | 1 0 | a Analysis of the DNA sequence and duplication history of human chromosome 15 |
264 | 1 | b Springer Science and Business Media LLC,c 2006 |
338 | a print2 rdacarrier | |
520 | a Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplication in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome. | |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
653 | a Genetics | |
653 | a Genetik | |
653 | a Genetics | |
653 | a Genetik | |
700 | 1 | a Garber, Manuelu Broad Institute4 aut |
700 | 1 | a Sharpe, Tedu Broad Institute4 aut |
700 | 1 | a Young, Sarahu Broad Institute4 aut |
700 | 1 | a Rowen, Leeu Institute for Systems Biology4 aut |
700 | 1 | a O'Neill, Keithu Broad Institute4 aut |
700 | 1 | a Whittaker, Charlesu Broad Institute4 aut |
700 | 1 | a Kamal, Michaelu Broad Institute4 aut |
700 | 1 | a Chang, Jeanu Broad Institute4 aut |
700 | 1 | a Cuomo, Christinau Broad Institute4 aut |
700 | 1 | a Dewar, Kenu Broad Institute4 aut |
700 | 1 | a FitzGerald, Michaelu Broad Institute4 aut |
700 | 1 | a Kodira, Chinnappau Broad Institute4 aut |
700 | 1 | a Madan, Anupu Institute for Systems Biology4 aut |
700 | 1 | a Qin, Shizhenu Institute for Systems Biology4 aut |
700 | 1 | a Yang, Xiaopingu Broad Institute4 aut |
700 | 1 | a Abbasi, Nissau Institute for Systems Biology4 aut |
700 | 1 | a Abouelleil, Amru Broad Institute4 aut |
700 | 1 | a Arachchi, Harindrau Broad Institute4 aut |
700 | 1 | a Baradarani, Lidau Institute for Systems Biology4 aut |
700 | 1 | a Birditt, Brianu Institute for Systems Biology4 aut |
700 | 1 | a Bloom, Scottu Institute for Systems Biology4 aut |
700 | 1 | a Bloom, Tobyu Broad Institute4 aut |
700 | 1 | a Borowsky, Marku Broad Institute4 aut |
700 | 1 | a Burke, Jeremyu Institute for Systems Biology4 aut |
700 | 1 | a Butler, Jonathanu Broad Institute4 aut |
700 | 1 | a Cook, Aprilu Broad Institute4 aut |
700 | 1 | a DeArellano, Kurtu Broad Institute4 aut |
700 | 1 | a DeCaprio, Davidu Broad Institute4 aut |
700 | 1 | a Dorris, Lesteru Broad Institute4 aut |
700 | 1 | a Dors, Monicau Institute for Systems Biology4 aut |
700 | 1 | a Eichler, Evanu University of Washington, Department of Genome Sciences4 aut |
700 | 1 | a Engels, Reinhardu Broad Institute4 aut |
700 | 1 | a Fahey, Jessicau Institute for Systems Biology4 aut |
700 | 1 | a Fleetwood, Peteru Institute for Systems Biology4 aut |
700 | 1 | a Friedman, Cynthiau Fred Hutchinson Cancer Research Center, Division of Human Biology4 aut |
700 | 1 | a Gearin, Garyu Broad Institute4 aut |
700 | 1 | a Hall, Jenniferu Broad Institute4 aut |
700 | 1 | a Hensley, Graceu Institute for Systems Biology4 aut |
700 | 1 | a Johnson, Erickau Institute for Systems Biology4 aut |
700 | 1 | a Jones, Charlienu Broad Institute4 aut |
700 | 1 | a Kamat, Ashau Broad Institute4 aut |
700 | 1 | a Kaur, Amardeepu Institute for Systems Biology4 aut |
700 | 1 | a Locke, Devinu University of Washington, Department of Genome Sciences4 aut |
700 | 1 | a Madan, Anuradhau Institute for Systems Biology4 aut |
700 | 1 | a Munson, Glenu Broad Institute4 aut |
700 | 1 | a Jaffe, Davidu Broad Institute4 aut |
700 | 1 | a Lui, Annieu Broad Institute4 aut |
700 | 1 | a Macdonald, Pendexteru Broad Institute4 aut |
700 | 1 | a Mauceli, Evanu Broad Institute4 aut |
700 | 1 | a Naylor, Jeromeu Broad Institute4 aut |
700 | 1 | a Nesbitt, Ryanu Institute for Systems Biology4 aut |
700 | 1 | a Nicol, Robertu Broad Institute4 aut |
700 | 1 | a O'Leary, Sinéadu Broad Institute4 aut |
700 | 1 | a Ratcliffe, Amberu Institute for Systems Biology4 aut |
700 | 1 | a Rounsley, Stevenu Broad Institute4 aut |
700 | 1 | a She, Xinweiu University of Washington, Department of Genome Sciences4 aut |
700 | 1 | a Sneddon, Katherineu University College London, Department of Biology,HUGO Gene Nomenclature Committee4 aut |
700 | 1 | a Stewart, Sandrau Institute for Systems Biology4 aut |
700 | 1 | a Sougnez, Carrieu Broad Institute4 aut |
700 | 1 | a Stone, Sabrinau Broad Institute4 aut |
700 | 1 | a Topham, Kerriu Broad Institute4 aut |
700 | 1 | a Vincent, Dascenau Institute for Systems Biology4 aut |
700 | 1 | a Wang, Shunguangu Broad Institute4 aut |
700 | 1 | a Zimmer, Andrewu Broad Institute4 aut |
700 | 1 | a Birren, Bruceu Broad Institute4 aut |
700 | 1 | a Hood, Leroyu Institute for Systems Biology4 aut |
700 | 1 | a Lander, icu Broad Institute4 aut |
700 | 1 | a Nusbaum, Chadu Broad Institute4 aut |
710 | 2 | a Broad Instituteb Institute for Systems Biology4 org |
773 | 0 | t Natured : Springer Science and Business Media LLCg 440:7084, s. 671-675q 440:7084<671-675x 0028-0836x 1476-4687 |
856 | 4 | u https://www.nature.com/articles/nature04601.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-108245 |
856 | 4 8 | u https://doi.org/10.1038/nature04601 |
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