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Genomic Structural Variants in Nervous System Disorders -

Genomic Structural Variants in Nervous System Disorders

Christos Proukakis (Herausgeber)

Buch | Softcover
272 Seiten
2023 | 1st ed. 2022
Springer-Verlag New York Inc.
978-1-0716-2359-6 (ISBN)
CHF 194,70 inkl. MwSt
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lt;p>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. 


lt;p>Acknowledgement...

Series Preface...

Preface...

Table of Contents...

Contributing Authors...


1.snakeSV: Flexible Framework for Large-Scale SV Discovery

Ricardo A. Vialle, and Towfique Raj


2.Detecting Tandem Repeat Expansions using Short Read Sequencing for Clinical Use

Mark F. Bennett, Arianna Tucci, and Melanie Bahlo


3.Transposable Element Structural Variants in Parkinson's Disease, Focusing on Genotyping Alu Transposable Element Insertions with TypeTE

Kimberley Billingsley, Jainy Thomas, and Clément Goubert


4.Analysis of the Retrotransposon SINE-VNTR-Alu (SVA) Polymorphisms in the Genetics and Pathophysiology of Complex Diseases

Sulev Kõks, Lewis Singleton, John P. Quinn, Vivien J. Bubb, and Abigail L. Pfaff


5.Long-Read Sequencing and Analysis of Variable Number Tandem Repeats  

Meredith M. Course, Kathryn Gudsnuk, and Paul N. Valdmanis


6.Multiplex CRISPR/Cas9-Guided No-Amp Targeted Sequencing Panel for Spinocerebellar Ataxia Repeat Expansions 

Yu-Chih Tsai, Faria Zafar, Zachary T. McEachin, Ian McLaughlin, Marka Van Blitterswijk, Janet Ziegle, and Birgitt Schüle


7.Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease

Satomi Mitsuhashi, Atsushi Fujita, and Naomichi Matsumoto


8.Analysis of the Hexanucleotide Repeat Domain in the TAF1 SVA Retrotransposon in X-Linked Dystonia-Parkinsonism 

Charles Jourdan Reyes, Theresa Lüth, and Joanne Trinh


9.Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions  

Hayk Barseghyan, Andy W.C. Pang, Yang Zhang, Nikhil S. Sahajpal, Yannick Delpu, Chi-Yu Jill Lai, Joyce Lee, Chloe Tessereau, Mark Oldakowski, Ravindra B. Kolhe, Henry Houlden, Peter L. Nagy, Aaron D. Bossler, Alka Chaubey, and Alex R. Hastie


10.Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders 

Eduardo Pérez-Palma, Lisa-Marie Niestroj, Miguel Inca-Martínez, Camilo Villaman, Elif Irem Sarihan, Dennis Lal, and Ignacio Mata


11.Locus-Specific DNA Methylation Profiling of Human LINE-1 Retrotransposons Francisco J. Sanchez-Luque, Marie-Jeanne H.C. Kempen, and Geoffrey J. Faulkner


12.Combined Fluorescent In-Situ Hybridization (FISH) and Immunofluorescence for the Targeted Detection of Somatic Copy Number Variants in Synucleinopathies

Monica Emili Garcia-Segura, Diego Perez-Rodriguez, and Christos Proukakis


13.Visualization of Defined Gene Sequences in Single Cell Nuclei by DNA In Situ Hybridization (DISH)

Chris Park, Gwendolyn E. Kaeser, and Jerold Chun


14.Assessing Mitochondrial DNA Deletions and Copy Number Changes in Microdissected Neurons 

Christian Dölle, Gonzalo S. Nido, Irene Flønes, and Charalampos Tzoulis


Subject Index List...


Erscheinungsdatum
Reihe/Serie Neuromethods
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 • Parkinson's Disease
ISBN-10 1-0716-2359-1 / 1071623591
ISBN-13 978-1-0716-2359-6 / 9781071623596
Zustand Neuware
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