標(biāo)題: Titlebook: Genomic Structural Variants in Nervous System Disorders; Christos Proukakis Book 2022 The Editor(s) (if applicable) and The Author(s), und [打印本頁] 作者: Helmet 時(shí)間: 2025-3-21 20:08
書目名稱Genomic Structural Variants in Nervous System Disorders影響因子(影響力)
書目名稱Genomic Structural Variants in Nervous System Disorders影響因子(影響力)學(xué)科排名
書目名稱Genomic Structural Variants in Nervous System Disorders網(wǎng)絡(luò)公開度
書目名稱Genomic Structural Variants in Nervous System Disorders網(wǎng)絡(luò)公開度學(xué)科排名
書目名稱Genomic Structural Variants in Nervous System Disorders被引頻次
書目名稱Genomic Structural Variants in Nervous System Disorders被引頻次學(xué)科排名
書目名稱Genomic Structural Variants in Nervous System Disorders年度引用
書目名稱Genomic Structural Variants in Nervous System Disorders年度引用學(xué)科排名
書目名稱Genomic Structural Variants in Nervous System Disorders讀者反饋
書目名稱Genomic Structural Variants in Nervous System Disorders讀者反饋學(xué)科排名
作者: Congregate 時(shí)間: 2025-3-21 23:20
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 作者: 協(xié)定 時(shí)間: 2025-3-22 00:41 作者: Ergots 時(shí)間: 2025-3-22 05:37
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作者: 閹割 時(shí)間: 2025-3-22 11:47
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 作者: dapper 時(shí)間: 2025-3-22 12:57
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作者: dapper 時(shí)間: 2025-3-22 18:42
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作者: 袋鼠 時(shí)間: 2025-3-23 00:04
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作者: Organonitrile 時(shí)間: 2025-3-23 02:17 作者: 紀(jì)念 時(shí)間: 2025-3-23 08:22 作者: LEER 時(shí)間: 2025-3-23 12:49 作者: 終端 時(shí)間: 2025-3-23 16:47 作者: 的闡明 時(shí)間: 2025-3-23 20:32 作者: albuminuria 時(shí)間: 2025-3-24 02:01 作者: 頌揚(yáng)本人 時(shí)間: 2025-3-24 04:41
Locus-Specific DNA Methylation Profiling of Human LINE-1 Retrotransposons,ent (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作者: 天文臺(tái) 時(shí)間: 2025-3-24 07:36 作者: EXCEL 時(shí)間: 2025-3-24 13:03
978-1-0716-2359-6The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Busines作者: Glossy 時(shí)間: 2025-3-24 16:57
Genomic Structural Variants in Nervous System Disorders978-1-0716-2357-2Series ISSN 0893-2336 Series E-ISSN 1940-6045 作者: Minutes 時(shí)間: 2025-3-24 20:53
https://doi.org/10.1007/978-981-99-6815-2ng Bioconda and can leverage cluster environments to speed up data processing via parallelization. Providing a set of preconfigured tools, all available at the Bioconda channel for easy installation, . combines a set of auxiliary scripts that makes it easy to integrate novel tools and features. Exec作者: Celiac-Plexus 時(shí)間: 2025-3-25 00:37 作者: Intruder 時(shí)間: 2025-3-25 04:34
Wilfred C.G. Peh,Seoung-Oh Yang MD, PhDat 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作者: micronized 時(shí)間: 2025-3-25 10:05
Imaging Features of COVID-19 in Children, are a large and diverse family of elements forming part of the repetitive genome or genomic dark matter that has not been addressed in detail in the majority of genetic studies. These repetitive and large elements are impossible to call from SNP-based genotyping data, and this is the main factor li作者: 套索 時(shí)間: 2025-3-25 13:29 作者: 圓柱 時(shí)間: 2025-3-25 19:07 作者: 哀求 時(shí)間: 2025-3-25 22:42
Anatomy and Development of the Ear,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 作者: Thyroid-Gland 時(shí)間: 2025-3-26 02:51
https://doi.org/10.1007/978-3-642-71307-1tion 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作者: cancer 時(shí)間: 2025-3-26 06:53
Inflammatory and Allergic Sinus Disease, 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作者: BADGE 時(shí)間: 2025-3-26 12:06 作者: Phonophobia 時(shí)間: 2025-3-26 13:35
Charles Van Valkenburg,Hagop S. Akiskaley 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作者: Genetics 時(shí)間: 2025-3-26 19:37 作者: Extricate 時(shí)間: 2025-3-26 21:35
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作者: 兒童 時(shí)間: 2025-3-27 02:19
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作者: indenture 時(shí)間: 2025-3-27 08:39 作者: 我正派 時(shí)間: 2025-3-27 11:20 作者: 細(xì)菌等 時(shí)間: 2025-3-27 14:11 作者: 前奏曲 時(shí)間: 2025-3-27 19:34 作者: 嘲笑 時(shí)間: 2025-3-28 01:17
,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作者: slow-wave-sleep 時(shí)間: 2025-3-28 05:27 作者: 健忘癥 時(shí)間: 2025-3-28 09:58
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作者: Flinch 時(shí)間: 2025-3-28 13:02 作者: archaeology 時(shí)間: 2025-3-28 18:28
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 作者: 單純 時(shí)間: 2025-3-28 21:53
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作者: Protein 時(shí)間: 2025-3-28 23:56
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作者: Exclude 時(shí)間: 2025-3-29 06:14 作者: myalgia 時(shí)間: 2025-3-29 10:17
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作者: 偏狂癥 時(shí)間: 2025-3-29 11:37
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作者: Macronutrients 時(shí)間: 2025-3-29 19:35
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作者: Intact 時(shí)間: 2025-3-29 20:50
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作者: Defiance 時(shí)間: 2025-3-30 01:41
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作者: Lucubrate 時(shí)間: 2025-3-30 04:21
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作者: medieval 時(shí)間: 2025-3-30 09:45 作者: Mettle 時(shí)間: 2025-3-30 14:34
Book 2022 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.?.作者: 姑姑在炫耀 時(shí)間: 2025-3-30 19:05 作者: 憤世嫉俗者 時(shí)間: 2025-3-30 20:45
Anatomy and Development of the Ear,e number of patients and is more cost-effective and suitable for the rapid screening performed in clinical settings. The long-read sequencing approach can identify these repeat expansions through focal and genome-wide analyses and characterize their precise repeat structures.作者: 托運(yùn) 時(shí)間: 2025-3-31 03:38
Long-Read Sequencing and Analysis of Variable Number Tandem Repeats,ing single-molecule, real-time long-read sequencing, and aligning, phasing, and analyzing them using a bioinformatics pipeline. Together, these methods describe a novel and powerful framework for studying VNTR function and evolution.
