This extensive volume explores the phenomena of chaotic genomic rearrangements, known as chromoanagenesis, their formation mechanisms, and the state-of-the-art techniques used to detect them. The book delves into the potential impact of chromoanagenesis on cancers and congenital diseases, as well as its broader implications for genomic evolution and human health through a variety of cutting-edge methodologies. Written for the highly successful Methods in Molecular Biology series, most chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, and tips for troubleshooting and avoiding known pitfalls.

Authoritative and comprehensive, Chromoanagenesis: Methods and Protocols serves as an ideal guide to the mechanisms and consequences of chromoanagenesis and a resource for researchers and clinicians seeking to explore the cutting-edge techniques and models used to study this phenomenon.

Includes cutting-edge techniques Provides step-by-step detail essential for reproducible results Contains key implementation advice from the experts

Inhalt

Chromothripsis.- Chromoanasynthesis.- Chromoplexy.- Chromoanagenesis and Beyond: Catastrophic Events Shaping the Genome.- Performing SABER-FISH on Chromosome Spreads in Fixed Tissue Culture Cells and in Tissues.- Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing.- Detection of Complex Genomic Rearrangements Using Short-Read Whole Genome Sequencing in C. elegans.- Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements.- Combination of Long-Read Sequencing and Hi-C Technology to Identify Chromoanagenesis Events in Cancer.- Identification and Characterization of Chromothripsis by Optical Genome Mapping.- Exploring Chromoanagenesis with DAFCA (Dam Assisted Fluorescent Tagging of Chromatin Accessibility): Integrating Chromatin Accessibility and Optical Genome Mapping for Enhanced Structural Variant Detection.- Leveraging Hi-C Data to Detect Chromosomal Reorganizations.- Chromoanagenesis Detection in Chronic Lymphocytic Leukemia.- Application and Prospects of Long Read Sequencers for Preimplantation Genetic Testing for Structural Rearrangements.- Visual Inspection of Sequencing Data for Diagnosis: Practical Guide to Structural Variant Analysis Using Integrative Genomics Viewer (IGV).- Artificial Intelligence and Chromothripsis.- Machine Learning for Detecting and Analyzing Chromoanagenesis Events.- ISCN and Chromoanagenesis.- Structural and Mechanistic Diversity of Constitutional Chromoanagenesis.- Chromoanagenesis in Multiple Myeloma: A Comprehensive Overview.- Origin and Fate of Micronuclei on the Road to Chromoanagenesis.- The Fate of Micronuclei.- Transgenerational Tracking of Chromosomes from Micronuclei.- Investigating Nuclear Envelope Assembly on Mis-Segregated Chromosomes.- Transcription-Replication Conflicts and Incomplete Replication as a Cause of Micronuclei-Driven Chromoanagenesis.- DNA Damage, Telomere and Centromere Dysfunction in Chromothripsis Rearrangements.- Incomplete Trisomic Rescue by Chromothripsis Leads to Small Supernumerary Marker Chromosomes.- Oligopaint FISH to Study Chromosomal Architecture and Structural Variations.- Single Molecule Studies with AFM and High-Speed AFM: From Nucleosomes to Chromosomes.- Multifocal Genomic Reconstruction Leading to Germline Structural Variants.- Sperm DNA Fragmentation as a Marker of Chromoanagenesis Occurrence during Spermatogenesis.- Isolation of Germ Cell Populations from Mouse Testis by Flow Cytometry.- The Chromatin Configuration Promotes Constitutional Chromosomal Rearrangements in Post-Meiotic Sperm.- Recql5-Deficient Mice as a Model for Studying Chromoanagenesis Phenomena.- Computational Modeling of Chromoanagenesis- or Chromothripsis-Induced SNPs in Anti-Apoptotic Genes: Their Impact on Protein Structure and Function.- Chromosomal Instability and Chromoanagenesis as Forces for Genomic Evolution.- The Evolutionary Potential of Chromoanagenesis.