tailieunhanh - Báo cáo y học: "proving draft assemblies by iterative mapping and assembly of short reads to eliminate gaps"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: improving draft assemblies by iterative mapping and assembly of short reads to eliminate gaps. | Tsai et al. Genome Biology 2010 11 R41 http 2010 11 4 R41 w Genome Biology METHOD _ Open Access Improving draft assemblies by iterative mapping and assembly of short reads to eliminate gaps Isheng J Tsai Thomas D Otto and Matthew Berriman Abstract Advances in sequencing technology allow genomes to be sequenced at vastly decreased costs. However the assembled data frequently are highly fragmented with many gaps. We present a practical approach that uses Illumina sequences to improve draft genome assemblies by aligning sequences against contig ends and performing local assemblies to produce gap-spanning contigs. The continuity of a draft genome can thus be substantially improved often without the need to generate new data. Background The complete genome sequence of an organism provides an invaluable resource to the wider research community and is the foundation for comparative and evolutionary genomics studies. With the recent advances in second-generation sequencing technologies 454 pyrosequencing Illumina SOLiD and Helicos genome projects have seen an explosion of sequence data production at a fraction of the per-base cost. However this cost reduction is compromised by typically shorter sequence lengths and unique profiles of sequencing errors compared with conventional capillary reads 1 . This leads to new computational challenges in assembly to address each of these differences as well as subsequent downstream analyses. The performance of de novo assembly software depends heavily on the sequence length depth of sequence coverage genome equivalents or fold coverage fragment size of the templates that are sequenced and the types of sequence errors specific to each technology. The situation is complicated by the range of assembly software that exists for use with second-generation technologies. For example Newbler produced by Roche specifically addresses 454 read-specific error profiles. A range of assemblers are available for de novo assembly of .

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