Description
Book SynopsisThis volume covers the detection of structural variants (SVs), which require different strategies than the ones used for single nucleotide variants (SNVs).
Table of ContentsAcknowledgement…
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…
