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008			230605s2022 xxu| o |||| 0|eng d
020			_a9781071623572
024	7		_a10.1007/978-1-0716-2357-2 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRC346.4 _b2022 EB
245	0	0	_aGenomic Structural Variants in Nervous System Disorders _cedited by Christos Proukakis
250			_a1st edition 2022
264		1	_aNew York, NY _bSpringer International Publising _c2022
300			_a1 recurso en línea (XVI, 272 páginas) _b71 ilustraciones, 48 ilustraciones a color
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_aarchivo de texto _bPDF
490	0		_aNeuromethods _x1940-6045 _v182
505	0		_asnakeSV: Flexible Framework for Large-Scale SV Discovery -- Detecting Tandem Repeat Expansions using Short Read Sequencing for Clinical Use -- Transposable Element Structural Variants in Parkinson's Disease, Focusing on Genotyping Alu Transposable Element Insertions with TypeTE -- Analysis of the Retrotransposon SINE-VNTR-Alu (SVA) Polymorphisms in the Genetics and Pathophysiology of Complex Diseases -- Long-Read Sequencing and Analysis of Variable Number Tandem Repeats -- Multiplex CRISPR/Cas9-Guided No-Amp Targeted Sequencing Panel for Spinocerebellar Ataxia Repeat Expansions -- Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease -- Analysis of the Hexanucleotide Repeat Domain in the TAF1 SVA Retrotransposon in X-Linked Dystonia-Parkinsonism -- Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions -- Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders -- Locus-Specific DNA Methylation Profiling of Human LINE-1 Retrotransposons -- Combined Fluorescent In-Situ Hybridization (FISH) and Immunofluorescence for the Targeted Detection of Somatic Copy Number Variants in Synucleinopathies -- Visualization of Defined Gene Sequences in Single Cell Nuclei by DNA In Situ Hybridization (DISH) -- Assessing Mitochondrial DNA Deletions and Copy Number Changes in Microdissected Neurons.
520			_aThis volume covers the detection of structural variants (SVs), which require different strategies than the ones used for single nucleotide variants (SNVs). This book aims to provide readers with a combination of the latest "wet lab" methods and computational pipelines that target all SV classes. The chapters in this book cover topics such as detection of transposable elements (TEs) from short read data; long read sequencing used for multiple variable number tandem repeat analysis; genomic mosaicism in the nervous system; and optical genome mapping. In the Neuromethods series style, chapters include the kind of detail and key advice from the specialists needed to get successful results in your laboratory. Cutting-edge and comprehensive, Genomic Structural Variants in Nervous System Disorders is a valuable resource for scientists and researchers interested in learning more about this important field. .
988			_aSpringer_Protocols_2022
650		7	_2embne _9188115 _aSistema nervioso central _xEnfermedades
650		7	_2embne _9164326 _aGenómica
776	0	8	_iPrinted edition: _z9781071623565
776	0	8	_iPrinted edition: _z9781071623589
776	0	8	_iPrinted edition: _z9781071623596
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-1-0716-2357-2 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b06/2023 _dz _eIG _zSI