Genomic Structural Variants in Nervous System Disorders
Springer-Verlag New York Inc.
978-1-0716-2356-5 (ISBN)
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.
snakeSV: Flexible Framework for Large-Scale SV Discovery.- Detecting Tandem Repeat Expansions using Short Read Sequencing for Clinical Use.- Transposable Element Structural Variants in Parkinson's Disease, Focusing on Genotyping Alu Transposable Element Insertions with TypeTE.- Analysis of the Retrotransposon SINE-VNTR-Alu (SVA) Polymorphisms in the Genetics and Pathophysiology of Complex Diseases.- Long-Read Sequencing and Analysis of Variable Number Tandem Repeats.- Multiplex CRISPR/Cas9-Guided No-Amp Targeted Sequencing Panel for Spinocerebellar Ataxia Repeat Expansions.- Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease.- Analysis of the Hexanucleotide Repeat Domain in the TAF1 SVA Retrotransposon in X-Linked Dystonia-Parkinsonism.- Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions.- Copy Number Variation Analysisfrom SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders.- Locus-Specific DNA Methylation Profiling of Human LINE-1 Retrotransposons.- Combined Fluorescent In-Situ Hybridization (FISH) and Immunofluorescence for the Targeted Detection of Somatic Copy Number Variants in Synucleinopathies.- Visualization of Defined Gene Sequences in Single Cell Nuclei by DNA In Situ Hybridization (DISH).- Assessing Mitochondrial DNA Deletions and Copy Number Changes in Microdissected Neurons.
Erscheinungsdatum | 06.06.2022 |
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Reihe/Serie | Neuromethods ; 182 |
Zusatzinfo | 48 Illustrations, color; 23 Illustrations, black and white; XVI, 272 p. 71 illus., 48 illus. in color. |
Verlagsort | New York, NY |
Sprache | englisch |
Maße | 178 x 254 mm |
Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie |
Medizin / Pharmazie ► Studium | |
Naturwissenschaften ► Biologie ► Humanbiologie | |
Naturwissenschaften ► Biologie ► Zoologie | |
Schlagworte | Autism spectrum disorder • machine-learning • neurodegenerative diseases • Optical Mapping • Parkinson’s disease |
ISBN-10 | 1-0716-2356-7 / 1071623567 |
ISBN-13 | 978-1-0716-2356-5 / 9781071623565 |
Zustand | Neuware |
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