ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2020
Structural variant identification and characterization.
Article 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 20 papers.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- The evolution of structural variation across 500 million years of vertebrate evolution.bioRxiv : the preprint server for biology · 2026Article
- Quality control strategy for differentiating induced pluripotent stem cells into pancreatic β-cells before transplantation.Regenerative medicine · 2026Review
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- Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice.Nature communications · 2025Article
- Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics.International journal of molecular sciences · 2025Article
- Comparative study of tools for copy number variation detection using next-generation sequencing data.Scientific reports · 2025Article
- Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.Scientific reports · 2025Article
- Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.NPJ genomic medicine · 2025Article
- Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing.Genetics in medicine open · 2025Article
- Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping.Scientific reports · 2024Article
- DTDHM: detection of tandem duplications based on hybrid methods using next-generation sequencing data.PeerJ · 2024Article
- Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements.Cell genomics · 2023Article
- Domestication Shapes Recombination Patterns in Tomato.Molecular biology and evolution · 2022Article
- Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.Cold Spring Harbor molecular case studies · 2021Article
- Single-molecule optical genome mapping in nanochannels: multidisciplinarity at the nanoscale.Essays in biochemistry · 2021Article
- The Cytogenomic "Theory of Everything": Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging.International journal of molecular sciences · 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
- The firstGigaByte (Hong Kong, China) · 2020Article
- DINTD: Detection and Inference of Tandem Duplications From Short Sequencing Reads.Frontiers in genetics · 2020Article
- Pediatric Tumors as Disorders of Development: The Case for In Vitro Modeling Based on Human Stem Cells.Cancer control : journal of the Moffitt Cancer CenterReview
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Structural variant (SV) differences between human genomes can cause germline and mosaic disease as well as inter-individual variation. De-regulation of accurate DNA repair and genomic surveillance mechanisms results in a large number of SVs in cancer. Analysis of the DNA sequences at SV breakpoints can help identify pathways of mutagenesis and regions of the genome that are more susceptible to rearrangement. Large-scale SV analyses have been enabled by high-throughput genome-level sequencing on humans in the past decade. These studies have shed light on the mechanisms and prevalence of complex genomic rearrangements. Recent advancements in both sequencing and other mapping technologies as well as calling algorithms for detection of genomic rearrangements have helped propel SV detection into population-scale studies, and have begun to elucidate previously inaccessible regions of the genome. Here, we discuss the genomic organization of simple and complex SVs, the molecular mechanisms of their formation, and various ways to detect them. We also introduce methods for characterizing SVs and their consequences on human genomes.
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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.