Computational methods for discovering structural variation with next-generation sequencing Export

@article{citeulike:6043555, abstract = {In the last several years, a number of studies have described large-scale structural variation in several genomes. Traditionally, such methods have used whole-genome array comparative genome hybridization or single-nucleotide polymorphism arrays to detect large regions subject to copy-number variation. Later techniques have been based on paired-end mapping of Sanger sequencing data, providing better resolution and accuracy. With the advent of next-generation sequencing, a new generation of methods is being developed to tackle the challenges of short reads, while taking advantage of the high coverage the new sequencing technologies provide. In this survey, we describe these methods, including their strengths and their limitations, and future research directions.}, author = {Medvedev, Paul and Stanciu, Monica and Brudno, Michael}, citeulike-article-id = {6043555}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/nmeth.1374}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/nmeth.1374}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/19844226}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=19844226}, day = {15}, doi = {10.1038/nmeth.1374}, issn = {1548-7091}, journal = {Nature Methods}, keywords = {srs, srs-assembly, srs-resequencing}, month = {October}, number = {11s}, pages = {S13--S20}, posted-at = {2009-11-06 17:00:32}, priority = {4}, publisher = {Nature Publishing Group}, title = {Computational methods for discovering structural variation with next-generation sequencing}, url = {http://dx.doi.org/10.1038/nmeth.1374}, volume = {6}, year = {2009} }

TY - JOUR ID - citeulike:6043555 L3 - citeulike-article-id:6043555 N2 - In the last several years, a number of studies have described large-scale structural variation in several genomes. Traditionally, such methods have used whole-genome array comparative genome hybridization or single-nucleotide polymorphism arrays to detect large regions subject to copy-number variation. Later techniques have been based on paired-end mapping of Sanger sequencing data, providing better resolution and accuracy. With the advent of next-generation sequencing, a new generation of methods is being developed to tackle the challenges of short reads, while taking advantage of the high coverage the new sequencing technologies provide. In this survey, we describe these methods, including their strengths and their limitations, and future research directions. IS - 11s JF - Nature Methods SN - 1548-7091 EP - S20 TI - Computational methods for discovering structural variation with next-generation sequencing PB - Nature Publishing Group VL - 6 SP - S13 KW - srs KW - srs-assembly KW - srs-resequencing AU - Medvedev, Paul AU - Stanciu, Monica AU - Brudno, Michael PY - 2009/10/15/ UR - http://dx.doi.org/10.1038/nmeth.1374 ER -