ReviewTrends in genetics : TIG2012
Characterizing complex structural variation in germline and somatic genomes.
Review in Trends in genetics : TIG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
67 citing papers in PubMed, 115 citations in OpenAlex.
- Improving Long-Read Somatic Structural Variant Calling with Pangenome and De Novo Personal Genome Assembly.Cancer research communications · 2026Article
- De Novo Genome Assemblies of Four Rainbow Trout Genetic Lines Reveal Structural Variants in Pursuit of a Pangenome Reference.Molecular ecology resources · 2026Article
- Benchmark for simple and complex genome inversions.bioRxiv : the preprint server for biology · 2025Article
- Improving long-read somatic structural variant calling with pangenome and de novo personal genome assembly.bioRxiv : the preprint server for biology · 2025Article
- Complex structural variant visualization with SVTopo.BMC genomics · 2025Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping.Scientific reports · 2024Article
- Article
- FindCSV: a long-read based method for detecting complex structural variations.BMC bioinformatics · 2024Article
- Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.American journal of human genetics · 2024Article
- Accurate identification of structural variations from cancer samples.Briefings in bioinformatics · 2023Article
- Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv : the preprint server for health sciences · 2023Article
- G-Quadruplex Structures Are Key Modulators of Somatic Structural Variants in Cancers.Cancer research · 2023Article
- Article
- Complex genomic rearrangements: an underestimated cause of rare diseases.Trends in genetics : TIG · 2022Review
- SVision: a deep learning approach to resolve complex structural variants.Nature methods · 2022Article
- Multiplex structural variant detection by whole-genome mapping and nanopore sequencing.Scientific reports · 2022Article
- Similarity-Based Analysis of Allele Frequency Distribution among Multiple Populations Identifies Adaptive Genomic Structural Variants.Molecular biology and evolution · 2022Article
- Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants.Genomics, proteomics & bioinformatics · 2022Article
- Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Genome structural variation (SV) is a major source of genetic diversity in mammals and a hallmark of cancer. Although SV is typically defined by its canonical forms (duplication, deletion, insertion, inversion and translocation), recent breakpoint mapping studies have revealed a surprising number of 'complex' variants that evade simple classification. Complex SVs are defined by clustered breakpoints that arose through a single mutation but cannot be explained by one simple end-joining or recombination event. Some complex variants exhibit profoundly complicated rearrangements between distinct loci from multiple chromosomes, whereas others involve more subtle alterations at a single locus. These diverse and unpredictable features present a challenge for SV mapping experiments. Here, we review current knowledge of complex SV in mammals, and outline techniques for identifying and characterizing complex variants using next-generation DNA sequencing.
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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.