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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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发表于 2025-3-21 20:08:05 | 显示全部楼层 |阅读模式
书目名称Genomic Structural Variants in Nervous System Disorders
编辑Christos Proukakis
视频video
概述Includes cutting-edge methods and protocols.Provides step-by-step detail essential for reproducible results.Contains key notes and implementation advice from the experts
丛书名称Neuromethods
图书封面Titlebook: Genomic Structural Variants in Nervous System Disorders;  Christos Proukakis Book 2022 The Editor(s) (if applicable) and The Author(s), und
描述.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. .
出版日期Book 2022
关键词neurodegenerative diseases; Parkinson’s disease; machine-learning; Autism Spectrum Disorder; Optical map
版次1
doihttps://doi.org/10.1007/978-1-0716-2357-2
isbn_softcover978-1-0716-2359-6
isbn_ebook978-1-0716-2357-2Series ISSN 0893-2336 Series E-ISSN 1940-6045
issn_series 0893-2336
copyrightThe Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Busines
The information of publication is updating

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发表于 2025-3-21 23:20:29 | 显示全部楼层
Wilfred C.G. Peh,Seoung-Oh Yang MD, PhD describing the analysis of TE insertion variants in whole genome sequencing data. Specifically, we describe a detailed protocol for genotyping . TE insertion variants with the . pipeline (.), an open-source software. Finally, we outline future developments for the pipeline, including incorporating
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https://doi.org/10.1007/978-3-642-71884-7 sizing can vary between labs. In addition, next-generation sequencing technologies with short reads also have their limitations because of the repetitive nature of the repeats resulting in alignment problems..Clinically, it has also become clear that repeat compositions, repeat interruptions, and m
发表于 2025-3-22 11:47:42 | 显示全部楼层
Inflammatory and Allergic Sinus Disease,saicism in the brain has been reported in various genetic neurodegenerative disorders. In order to detect and study structural variants related to neurologic disorders, many genomic technologies are applied in clinical and translational research. Optical genome mapping (OGM) is a new method for the
发表于 2025-3-22 12:57:40 | 显示全部楼层
https://doi.org/10.1007/978-94-015-1126-1s. Here we describe a workflow to detect and analyze CNVs from SNP genotyping microarrays. We describe established CNV quality control procedures, CNV downstream analyses, case-control burden analysis, and validation protocols with particular focus on nervous system disorders and non-European datase
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Charles Van Valkenburg,Hagop S. Akiskalent (and potentially mobile) L1s, with many of these only being found in small human populations. In certain cell types, such as neurons, somatic L1 insertions can arise and incorporate new L1 transcriptional units. The technique presented here allows . DNA methylation profiling of multiple L1s in a
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Brian P. Yochim,Stephanie Potts forms in Alzheimer’s disease (AD) brains where both full-length annotated splice-isoforms and novel shortened . sequences containing intraexonic junctions (IEJs), and single nucleotide variants (SNVs) were observed within genomic DNA. Modification of a commercially available RNA ISH technology, Bas
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