Genomic Structural Variants in Nervous System Disorders

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.