| Description |
1 online resource (xi, 386 pages) |
| Series |
Methods in molecular biology, 1064-3745 ; 838 |
|
Methods in molecular biology ; 838.
|
| Contents |
What have studies of genomic disorders taught us about our genome? / Alexandra D. Simmons, Claudia M.B. Carvalho, and James R. Lupski -- Microdeletion and microduplication syndromes / Lisenka E.L.M. Vissers and Paweł Stankiewicz -- Structural genomic variation in intellectual disability / Rolph Pfundt and Joris A. Veltman -- Copy number variation and psychiatric disease risk / Rebecca J. Levy [and others] -- Detection and characterization of copy number variation in autism spectrum disorder / Christian R. Marshall and Stephen W. Scherer -- Structural variation in subtelomeres / M. Katharine Rudd -- Array-based approaches in prenatal diagnosis / Paul D. Brady [and others] -- Structural variation and its effect on expression / Louise Harewood, Evelyne Chaignat, and Alexandre Reymond -- Challenges of studying complex and dynamic regions of the human genome / Edward J. Hollox -- Population genetic nature of copy number variation / Per Sjödin and Mattias Jakobsson -- Detection and interpretation of genomic structural variation in mammals / Ira M. Hall and Aaron R. Quinlan -- Structural genetic variation in the context of somatic mosaicism / Jan P. Dumanski and Arkadiusz Piotrowski -- Online resources for genomic structural variation / Tam P. Sneddon and Deanna M. Church -- Algorithm implementation for CNV discovery using Affymetrix and Illumina SNP array data / Laura Winchester and Jiannis Ragoussis -- Targeted screening and validation of copy number variations / Shana Ceulemans, Karlijn van der Ven, and Jurgen Del-Favero -- High-resolution copy number profiling by array CGH using DNA isolated from formalin-fixed, paraffin-embedded tissues / Hendrik F. van Essen and Bauke Ylstra -- Characterizing and interpreting genetic variation from personal genome sequencing / Anna C.V. Johansson and Lars Feuk -- Massively parallel sequencing approaches for characterization of structural variation / Daniel C. Koboldt [and others] |
| Summary |
The completion of a consensus draft sequence for the human genome was the starting point for more thorough investigations of individual genome variation. The development of array-based strategies made it possible to look at our genome in new ways and for new types of variation to be discovered and characterized. Characterization of copy number variation and other forms of structural genetic variation has highlighted the complexity of human genetic variation and also provided significant insight into the evolution and dynamic nature of our genome. Genomic Structural Variants: Methods and Protocols provides an in-depth description of the developments in our understanding of structural genetic variation and its implications for human disease, from the introduction of microarrays up to current state-of-the-art sequencing strategies. It covers the major technologies used for research and diagnostics as well as web-based resources for variation data, and it then goes into depth regarding specific regions of the genome that differ in variation content. Specific patient groups where copy number variation has been shown to be of great importance are highlighted, and implications for both pre-natal and standard diagnostics are described. Written in the highly successful Methods in Molecular Biology"!series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and accessible, Genomic Structural Variants: Methods and Protocols provides complete comprehensive coverage of this burgeoning field |
| Analysis |
Medicine |
|
Human genetics |
|
Medical genetics |
|
Biomedicine |
|
Gene Function |
|
biomedische wetenschappen |
|
humane genetica |
|
moleculaire genetica |
|
molecular genetics |
|
Medicine (General) |
|
Geneeskunde (algemeen) |
| Bibliography |
Includes bibliographical references and index |
| Notes |
English |
| Subject |
Human genetics -- Variation.
|
|
Genomics.
|
|
Genetic disorders.
|
|
DNA Copy Number Variations
|
|
Genetic Diseases, Inborn
|
|
Genomic Structural Variation
|
|
Genetic Variation
|
|
Genomics
|
|
Genetic disorders
|
|
Genomics
|
|
Human genetics -- Variation
|
| Genre/Form |
Laboratory manuals.
|
|
Manuels de laboratoire.
|
| Form |
Electronic book
|
| Author |
Feuk, Lars
|
| ISBN |
9781617795077 |
|
1617795070 |
|
1617795062 |
|
9781617795060 |
|
