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Genomic Structural Variants in Nervous System Disorders

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Cover of 'Genomic Structural Variants in Nervous System Disorders'

Table of Contents

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    Book Overview
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    Chapter 1 snakeSV: Flexible Framework for Large-Scale SV Discovery
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    Chapter 2 Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use
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    Chapter 3 Transposable Element Structural Variants in Parkinson’s Disease: Focusing on Genotyping Alu Transposable Element Insertions with TypeTE
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    Chapter 4 Analysis of the Retrotransposon SINE-VNTR-Alu (SVA) Polymorphisms in the Genetics and Pathophysiology of Complex Diseases
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    Chapter 5 Long-Read Sequencing and Analysis of Variable Number Tandem Repeats
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    Chapter 6 Multiplex CRISPR/Cas9-Guided No-Amp Targeted Sequencing Panel for Spinocerebellar Ataxia Repeat Expansions
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    Chapter 7 Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease
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    Chapter 8 Analysis of the Hexanucleotide Repeat Domain in the TAF1 SVA Retrotransposon in X-Linked Dystonia-Parkinsonism
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    Chapter 9 Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions
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    Chapter 10 Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders
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    Chapter 11 Locus-Specific DNA Methylation Profiling of Human LINE-1 Retrotransposons
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    Chapter 12 Combined Fluorescent In Situ Hybridization (FISH) and Immunofluorescence for the Targeted Detection of Somatic Copy Number Variants in Synucleinopathies
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    Chapter 13 Visualization of Defined Gene Sequences in Single Nuclei by DNA In Situ Hybridization (DISH)
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    Chapter 14 Assessing Mitochondrial DNA Deletions and Copy-Number Changes in Microdissected Neurons
Attention for Chapter 2: Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use
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Chapter title
Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use
Chapter number 2
Book title
Genomic Structural Variants in Nervous System Disorders
Published by
Humana, New York, NY, June 2022
DOI 10.1007/978-1-0716-2357-2_2
Book ISBNs
978-1-07-162356-5, 978-1-07-162357-2
Authors

Mark F. Bennett, Arianna Tucci, Melanie Bahlo, Bennett, Mark F., Tucci, Arianna, Bahlo, Melanie

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