Genomic Mosaicism in Neurons and Other Cell Types

Principles and Approaches for Discovery and Validation of Somatic Mosaicism in the Human Brain.- FISH-Based Assays for Detecting Genomic (Chromosomal) Mosaicism in Human Brain Cells.- Flow Cytometric and Sorting Analyses for Nuclear DNA Content, Nucleotide Sequencing and Interphase FISH.- Flow Cytometric Quantification, Isolation, and Subsequent Epigenetic Analysis of Tetraploid Neurons.- A Cytomic Approach towards Genomic Individuality of Neurons.- Single Cell CNV Detection in Human Neuronal Nuclei.- Multiple Annealing and Looping-Based Amplification Cycles (MALBAC) for the Analysis of DNA Copy Number Variation.- Competitive PCR for Copy Number Assessment by Restricting dNTPs.- Using Cloning to Amplify Neuronal Genomes for Whole Genome Sequencing and Comprehensive Mutation Detection and Validation.- Analysis of LINE-1 Retrotransposition in Neural Progenitor Cells and Neurons.- Estimation of LINE-1 Copy Number in the Brain Tissue and Isolated Neuronal Nuclei.- Analysis of Somatic LINE-1 Insertions in Neurons.- Single-Cell Whole Genome Amplification and Sequencing to Study Neuronal Mosaicism and Diversity.- FISH Analysis of Aging-Associated Aneuploidy in Neurons and Non-Neuronal Brain Cells.- Genomic Analysis and In Vivo Functional Validation of Brain Somatic Mutations Leading to Focal Cortical Malformations.- Using Fluorescence In Situ Hybridization (FISH) Analysis to Measure Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative Diseases.- Identification of Low Allele Frequency Mosaic Mutations in Alzheimer Disease.