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Genomic Structural Variants in Nervous System Disorders
Title
Genomic Structural Variants in Nervous System Disorders [electronic resource] / edited by Christos Proukakis.
ISBN
9781071623572
Edition
1st ed. 2022.
Publication
New York, NY : Springer US : Imprint: Humana, 2022.
Physical Description
1 online resource (XVI, 272 p.) 71 illus., 48 illus. in color.
Local Notes
Access is available to the Yale community.
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Access restricted by licensing agreement.
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. .
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Format
Books / Online
Language
English
Added to Catalog
June 21, 2022
Series
Neuromethods, 182
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.
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