Genomic Structural Variants: Methods and Protocols by Alexandra D. Simmons, Claudia M. B. Carvalho (auth.), Lars

By Alexandra D. Simmons, Claudia M. B. Carvalho (auth.), Lars Feuk (eds.)

The finishing touch of a consensus draft series for the human genome was once the place to begin for extra thorough investigations of person genome edition. the improvement of array-based suggestions made it attainable to examine our genome in new methods and for brand spanking new forms of edition to be stumbled on and characterised. Characterization of replica quantity edition and different kinds of structural genetic edition has highlighted the complexity of human genetic version and in addition supplied major perception into the evolution and dynamic nature of our genome. Genomic Structural editions: equipment and Protocols offers an in-depth description of the advancements in our realizing of structural genetic version and its implications for human disorder, from the creation of microarrays as much as present state of the art sequencing options. It covers the key applied sciences used for learn and diagnostics in addition to web-based assets for version information, and it then is going into intensity relating to particular areas of the genome that vary in version content material. particular sufferer teams the place replica quantity edition has been proven to be of serious significance are highlighted, and implications for either pre-natal and traditional diagnostics are defined. Written within the hugely profitable Methods in Molecular Biology™ sequence layout, chapters include introductions to their respective themes, lists of the required fabrics and reagents, step by step, easily reproducible laboratory protocols, and notes on troubleshooting and keeping off recognized pitfalls.

Authoritative and available, Genomic Structural editions: equipment and Protocols presents entire entire insurance of this burgeoning field.

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Schaibley, V. , et al. (2009) Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants, Am J Hum Genet 84, 339–350. 69. , et al. (2006) Phenotype associated with APP duplication in five families, Brain 129, 2966–2976. 70. Chartier-Harlin, M. , et al. (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson’s disease, Lancet 364, 1167–1169. 71. , et al. (2006) Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males, Genet Med 8, 784–792.

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