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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Brian P. Yochim,Stephanie Pottsce 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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Samuel M. Turner,Nancy Heiser,Michel Hersen 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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,Transposable Element Structural Variants in Parkinson’s Disease: Focusing on Genotyping , Transposaat contributes to PD is still unknown. This is in part since many previous genetic studies have focused solely on the contribution of single nucleotide variants (SNVs). Structural variants (SVs), such as transposable element (TE) insertion variants, represent a major source of genetic variation in t

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Long-Read Sequencing and Analysis of Variable Number Tandem Repeats,6 bp in repeat unit size, termed variable number tandem repeats (VNTRs), have remained understudied. This lack of characterization is primarily because many VNTRs are in noncoding or intergenic regions and because their size often exceeds the sequence length of short-read sequencing technologies com

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