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Book Cover

Title Genomic structural variants in nervous system disorders / edited by Christos Proukakis
Published New York, NY : Humana Press, [2022]


Description 1 online resource (xvi, 272 pages) : illustrations (some color)
Series Neuromethods, 1940-6045 ; 182
Springer protocols
Neuromethods ; 182. 0893-2336
Springer protocols (Series) 1949-2448
Contents SnakeSV: 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
Summary This 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
Bibliography Includes bibliographical references and index
Notes Online resource; title from PDF title page (SpringerLink, viewed March 28, 2023)
Subject Nervous system -- Diseases -- Genetic aspects
Human genetics -- Variation.
Nervous System Diseases -- genetics
Genomics -- methods
Genetic Variation
Nervous system -- Diseases -- Genetic aspects
Genre/Form Laboratory manuals.
Manuels de laboratoire.
Form Electronic book
Author Proukakis, Christos, editor
ISBN 9781071623572