ReviewTrends in genetics : TIG2015
Human Structural Variation: Mechanisms of Chromosome Rearrangements.
Review in Trends in genetics : TIG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 149 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
149 citing papers in PubMed, 2 syntheses or guidelines pooled it, 262 citations in OpenAlex.
- A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1.Frontiers in genetics · 2022Pooled it
- Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature.Reproductive biology and endocrinology : RB&E · 2021Pooled it
- Uncovering structural variation in conifer gigagenomes: evolutionary insights and technical challenges.Molecular biology and evolution · 2026Article
- Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion.Molecular syndromology · 2026Article
- Ionizing Radiation and Ultraviolet Light Irradiation-Associated DNA Damage Increasing Genomic Instability Risk.Cancer science · 2026Review
- Review
- Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.Bioinformatics (Oxford, England) · 2026Article
- Telomere-to-Telomere Genomes Reveal that Multiscale Evolution Shapes the Largest Metabolic Arsenal of Diaporthe Fungi.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Long-read sequencing identifies complex structural variants in DMD patients.BMC medical genomics · 2026Article
- Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.Journal of human genetics · 2026Article
- Genome-wide identification and expression analysis of Wnt gene family in the forest musk deer (Moschus berezovskii) under musk secretion stage.BMC genomics · 2025Article
- Prime editing for the investigation of aberrant splicing defect associated with a pathogenicMolecular therapy. Nucleic acids · 2025Article
- Endogenous retroviruses in aging and cancer: from genomic defense to oncogenic activation.Mobile DNA · 2025Review
- SSLCNV: A Semi-supervised Learning Framework for Accurate Copy Number Variation Detection.Interdisciplinary sciences, computational life sciences · 2025Article
- The urinary eccDNA landscape in prostate cancer reveals associations with genome instability and vital roles in cancer progression.Journal of advanced research · 2025Article
- Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice.Nature communications · 2025Article
- Complex structural variant visualization with SVTopo.BMC genomics · 2025Article
- Uncovering theGenes · 2025Review
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Enhancing recombinant protein production through Cre-loxP mediated chromosomal rearrangement evolution in Kluyveromyces marxianus.Communications biology · 2025Article
89 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
Chromosome structural variation (SV) is a normal part of variation in the human genome, but some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA sequence at SV breakpoints can reveal mutational mechanisms and risk factors for chromosome rearrangement. Large-scale SV breakpoint studies have become possible recently owing to advances in next-generation sequencing (NGS) including whole-genome sequencing (WGS). These findings have shed light on complex forms of SV such as triplications, inverted duplications, insertional translocations, and chromothripsis. Sequence-level breakpoint data resolve SV structure and determine how genes are disrupted, fused, and/or misregulated by breakpoints. Recent improvements in breakpoint sequencing have also revealed non-allelic homologous recombination (NAHR) between paralogous long interspersed nuclear element (LINE) or human endogenous retrovirus (HERV) repeats as a cause of deletions, duplications, and translocations. This review covers the genomic organization of simple and complex constitutional SVs, as well as the molecular mechanisms of their formation.
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What OpenQuestion holds
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.