Genomic Structural Variants in Nervous System Disorders

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 Cl幦ent Goubert

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

Sulev K鰈s, 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 Sche

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 Lh, 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 P廨ez-Palma, Lisa-Marie Niestroj, Miguel Inca-Mart璯ez, 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 D闤le, Gonzalo S. Nido, Irene Fl nes, and Charalampos Tzoulis

Subject Index List...