000			04437nam a2200397 i 4500
999			_c393615 _d393615
001			393615
003			ES-MaUEC
005			20231227144854.0
006			a|||| o|||| 00| 0
007			cr nn 008mamaa
008			120106s2012 xxua o |||| 0|eng d
020			_a9781617795077
024	7		_a10.1007/978-1-61779-507-7 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRB155.5 _b2012 EB
245	0	0	_aGenomic Structural Variants : _bMethods and Protocols _cedited by Lars Feuk
250			_a1st edition 2012
264		1	_aTotowa, NJ _bHumana Press _c2012
300			_a1 recurso en línea (XI, 386 páginas) _b39 ilustraciones, 5 ilustraciones a color
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_aarchivo de texto _bPDF
490	0		_aMethods in Molecular Biology _x1940-6029 _v838
505	0		_aWhat Have Studies of Genomic Disorders Taught us about our Genome -- Microdeletion and Microduplication Syndromes -- Structural Genomic Variation in Mental Retardation -- Copy Number Variation and Psychiatric Disease Risk -- Detection and Characterization of Copy Number Variation (CNV) in Autism Spectrum Disorder (ASD) -- Structural Variation in Subtelomeres -- Array Based Approaches in Prenatal Diagnosis -- Structural Variation and its Effect on Expression -- The Challenges of Studying Complex and Dynamic Regions of the Human Genome -- Population Genetic Nature of Copy Number Variation -- Detection and Interpretation of Genomic Structural Variation in Mammals -- Structural Genetic Variation in the Context of Somatic Mosaicism -- Online Resources for Genomic Structural Variation -- Algorithm Implementation for CNV Discovery using Affymetrix and Ilumina SNP Array Data -- Targeted Screening and Validation of Copy Nuber Variations -- High-resolution Copy Number Profiling by Array CGH using DNA Isolated from Formalin-Fixed Paraffin-Embedded Tissues -- Characterizing and Interpreting Genetic Variation from Personal Genome Sequencing -- Massively Parallel Sequencing Approaches for Characterization of Structural Variation.
520			_aThe 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.
988			_aSpringer_Protocols_2012
650		7	_2embne _9140427 _aEnfermedades hereditarias _vManuales de laboratorio
776	0	8	_iPrinted edition: _z9781617795060
776	0	8	_iPrinted edition: _z9781617795084
776	0	8	_iPrinted edition: _z9781493961894
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-1-61779-507-7 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b12/2023 _dz _eb _zPRE