ReviewChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2020
Cellular and genomic approaches for exploring structural chromosomal rearrangements.
Review in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
- Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics.International journal of molecular sciences · 2025Article
- Emerging questions on the mechanisms and dynamics of 3D genome evolution in spiralians.Briefings in functional genomics · 2023Review
- Improvement of large copy number variant detection by whole genome nanopore sequencing.Journal of advanced research · 2023Article
- ZEB1 promotes DNA homologous recombination repair and contributes to the 5-Fluorouracil resistance in colorectal cancer.American journal of cancer research · 2023Article
- Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022Review
- Fluorescence In Situ Hybridization (FISH) Tests for Identifying Protozoan and Bacterial Pathogens in Infectious Diseases.Diagnostics (Basel, Switzerland) · 2022Review
- Mechanistic origins of diverse genome rearrangements in cancer.Seminars in cell & developmental biology · 2022Review
- The Evolution of Chromosome Numbers: Mechanistic Models and Experimental Approaches.Genome biology and evolution · 2021Article
- Editorial: Chromosomal Evolution in Plants.Frontiers in plant science · 2021Article
- The Cytogenomic "Theory of Everything": Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging.International journal of molecular sciences · 2020Article
- 3D mapping and accelerated super-resolution imaging of the human genome using in situ sequencing.Nature methods · 2020Article
- A sampling of methods to study chromosome and genome structure and function.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2020Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Human chromosomes are arranged in a linear and conserved sequence order that undergoes further spatial folding within the three-dimensional space of the nucleus. Although structural variations in this organization are an important source of natural genetic diversity, cytogenetic aberrations can also underlie a number of human diseases and disorders. Approaches for studying chromosome structure began half a century ago with karyotyping of Giemsa-banded chromosomes and has now evolved to encompass high-resolution fluorescence microscopy, reporter-based assays, and next-generation DNA sequencing technologies. Here, we provide a general overview of experimental methods at different resolution and sensitivity scales and discuss how they can be complemented to provide synergistic insight into the study of human chromosome structural rearrangements. These approaches range from kilobase-level resolution DNA fluorescence in situ hybridization (FISH)-based imaging approaches of individual cells to genome-wide sequencing strategies that can capture nucleotide-level information from diverse sample types. Technological advances coupled to the combinatorial use of multiple methods have resulted in the discovery of new rearrangement classes along with mechanistic insights into the processes that drive structural alterations in the human genome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.