Closing gaps in the human genome with fosmid resources generated from multiple individuals View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-12-23

AUTHORS

Donald Bovee, Yang Zhou, Eric Haugen, Zaining Wu, Hillary S Hayden, Will Gillett, Eray Tuzun, Gregory M Cooper, Nick Sampas, Karen Phelps, Ruth Levy, V Anne Morrison, James Sprague, Donald Jewett, Danielle Buckley, Sandhya Subramaniam, Jean Chang, Douglas R Smith, Maynard V Olson, Evan E Eichler, Rajinder Kaul

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. More... »

PAGES

96-101

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.2007.34

DOI

http://dx.doi.org/10.1038/ng.2007.34

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013981635

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18157130


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