Closing gaps in the human genome with fosmid resources generated from multiple individuals Export

@article{bov2004clo, abstract = {The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the human genome. Here we report 2,488,842 bp of previously unknown euchromatic sequence, 363,114 bp of which close 26 of 250 euchromatic gaps, or 10\%, including two remaining euchromatic gaps on chromosome 19. Eight (30.7\%) of the closed gaps were found to be polymorphic. These sequences allow complete annotation of several human genes as well as the assignment of mRNAs. The gap sequences are 2.3-fold enriched in segmentally duplicated sequences compared to the whole genome. Our analysis confirms that not all gaps within 'finished' genomes are recalcitrant to subcloning and suggests that the paired-end-sequenced fosmid libraries could prove to be a rich resource for completion of the human euchromatic genome.}, address = {Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA.}, author = {Bovee, Donald and Zhou, Yang and Haugen, Eric and Wu, Zaining and Hayden, Hillary S. and Gillett, Will and Tuzun, Eray and Cooper, Gregory M. and Sampas, Nick and Phelps, Karen and Levy, Ruth and Morrison, V. Anne and Sprague, James and Jewett, Donald and Buckley, Danielle and Subramaniam, Sandhya and Chang, Jean and Smith, Douglas R. and Olson, Maynard V. and Eichler, Evan E. and Kaul, Rajinder}, citeulike-article-id = {2169939}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/ng.2007.34}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/ng.2007.34}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/18157130}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=18157130}, day = {23}, doi = {10.1038/ng.2007.34}, issn = {1546-1718}, journal = {Nat Genet}, keywords = {gaps, human, inversion-paper, quality}, month = {January}, number = {1}, pages = {96--101}, posted-at = {2009-07-28 18:35:45}, priority = {2}, publisher = {Nature Publishing Group}, title = {Closing gaps in the human genome with fosmid resources generated from multiple individuals}, url = {http://dx.doi.org/10.1038/ng.2007.34}, volume = {40}, year = {2008} }

TY - JOUR ID - bov2004clo L3 - citeulike-article-id:2169939 N2 - The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the human genome. Here we report 2,488,842 bp of previously unknown euchromatic sequence, 363,114 bp of which close 26 of 250 euchromatic gaps, or 10%, including two remaining euchromatic gaps on chromosome 19. Eight (30.7%) of the closed gaps were found to be polymorphic. These sequences allow complete annotation of several human genes as well as the assignment of mRNAs. The gap sequences are 2.3-fold enriched in segmentally duplicated sequences compared to the whole genome. Our analysis confirms that not all gaps within 'finished' genomes are recalcitrant to subcloning and suggests that the paired-end-sequenced fosmid libraries could prove to be a rich resource for completion of the human euchromatic genome. IS - 1 JF - Nat Genet SN - 1546-1718 AD - Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA. EP - 101 TI - Closing gaps in the human genome with fosmid resources generated from multiple individuals PB - Nature Publishing Group VL - 40 SP - 96 KW - gaps KW - human KW - inversion-paper KW - quality AU - Bovee, Donald AU - Zhou, Yang AU - Haugen, Eric AU - Wu, Zaining AU - Hayden, Hillary AU - Gillett, Will AU - Tuzun, Eray AU - Cooper, Gregory AU - Sampas, Nick AU - Phelps, Karen AU - Levy, Ruth AU - Morrison, Anne AU - Sprague, James AU - Jewett, Donald AU - Buckley, Danielle AU - Subramaniam, Sandhya AU - Chang, Jean AU - Smith, Douglas AU - Olson, Maynard AU - Eichler, Evan AU - Kaul, Rajinder PY - 2008/01/23/ UR - http://dx.doi.org/10.1038/ng.2007.34 ER -