Computational methods for discovering structural variation with next-generation sequencing

• Published in: Nature methods Vol. 6; no. Suppl 11; pp. S13 - S20
• Main Authors: Medvedev, Paul, Stanciu, Monica, Brudno, Michael
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.11.2009; Nature Publishing Group
• Subjects: Algorithms; Analysis; Base Sequence; Bioinformatics; Biological Microscopy; Biological Techniques; Biomedical and Life Sciences; Biomedical Engineering/Biotechnology; Computational biology; Computational Biology - methods; DNA sequencing; Genetic Variation; Genome; Genomes; Genomics; Genomics - methods; Humans; Hybridization; Innovations; Life Sciences; Methods; Molecular structure; Nucleotide sequencing; Properties; Proteomics; Research methodology; review-article; Sequence Analysis, DNA - methods; Technological change; Canada

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 variati...