Genomic Structural Variants in Nervous System Disorders / edited by Christos Proukakis.

Format:

Book

Contributor:

Proukakis, Christos, Editor.

SpringerLink (Online service)

Series:

Springer Protocols (Springer-12345)

Neuromethods 1940-6045 ; 182

Neuromethods, 1940-6045 ; 182

Language:

English

Subjects (All):

Neurosciences.

Neuroscience.

Local Subjects:

Neuroscience.

Physical Description:

1 online resource (XVI, 272 pages) : 71 illustrations, 48 illustrations in color.

Edition:

1st ed. 2022.

Contained In:

Springer Nature eBook

Place of Publication:

New York, NY : Springer US : Imprint: Humana, 2022.

System Details:

text file PDF

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. .

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.

Other Format:

Printed edition:

ISBN:

978-1-0716-2357-2

9781071623572

Access Restriction:

Restricted for use by site license.