Titlebook: Genomic Structural Variants in Nervous System Disorders; Christos Proukakis Book 2022 The Editor(s) (if applicable) and The Author(s), und

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Detecting the , Repeat Expansion in Neuronal Intranuclear Inclusion Disease,ding cognitive impairment, ataxia, and neuropathy. Histopathologically, NIID is characterized by ubiquitin-positive eosinophilic hyaline intranuclear inclusions found in neurons and glial cells, in addition to other cell types, such as skin fibroblasts. GGC triplet repeat expansions in the 5′ exons

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Analysis of the Hexanucleotide Repeat Domain in the , SVA Retrotransposon in X-Linked Dystonia-Parktion of a SINE-VNTR-. (SVA)-type retrotransposon within an intron of the . gene. Within the SVA, there is a polymorphic hexanucleotide repeat domain, (CCCTCT)., which varies between 30 and 55 repeats and correlates with age at disease onset. There has been evidence to suggest that various hexanucleo

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Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced to be caused by recurrent copy number variants (CNVs) at specific genomic loci as a result of non-allelic homologous recombination and concomitant inversions, translocations, deletions, or duplications accounting for some well-known developmental delay syndromes. Also, tandem repeat contractions an

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Locus-Specific DNA Methylation Profiling of Human LINE-1 Retrotransposons,ey are responsible for insertional mutagenesis traced to the germline and early embryo, cancer cells and healthy somatic tissues, such as the brain. L1 insertions can therefore impact both the heritable and somatic genome, with the potential to lead to pathogenesis in either context. The mobility of

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Combined Fluorescent In Situ Hybridization (FISH) and Immunofluorescence for the Targeted Detectionstem. Targeted assessment of low levels of somatic CNVs can be performed using fluorescent in situ hybridization (FISH). Combining this technique with immunofluorescence in frozen brain sections allows the determination of whether somatic CNVs occur in cells with specific disease and cell-type marke

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Visualization of Defined Gene Sequences in Single Nuclei by DNA In Situ Hybridization (DISH),ce in situ hybridization (FISH); however, standard FISH typically cannot resolve single genes or gene variations. Here we provide a protocol for DNA in situ hybridization (DISH) that is capable of identifying single gene loci and gene variants within the nucleus of single cells. DISH was developed t

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Assessing Mitochondrial DNA Deletions and Copy-Number Changes in Microdissected Neurons, as in the process of aging. Accurate assessment of mtDNA changes in the brain presents several methodological challenges, relating mainly to the heteroplasmic nature and cell-type specificity of these mutations. Here, we describe selected methodologies designed to detect and quantify mtDNA copy num

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Book 2022SNVs). 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 var

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0893-2336 ation advice from the experts.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 t