ReviewNature genetics2007
Challenges and standards in integrating surveys of structural variation.
Review in Nature genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 193 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.
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Who cites it
193 citing papers in PubMed.
- Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle.Journal of advanced research · 2026Article
- A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization.Molecular cytogenetics · 2025Article
- Exploring cattle structural variation in the era of long reads, pangenome graphs, and near-complete assemblies.Journal of animal science and biotechnology · 2025Review
- Complex de novo structural variants are an underestimated cause of rare disorders.Nature communications · 2025Article
- Global Pangenome Analysis Highlights the Critical Role of Structural Variants in Cattle Improvement and Identifies a Unique Event as a Novel Enhancer in IGFBP7+ Cells.Molecular biology and evolution · 2025Article
- Structural variation detection and association analysis of whole-genome-sequence data from 16,543 Alzheimer's disease sequencing project subjects.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Whole-Genome Resequencing Analysis of Copy Number Variations Associated with Athletic Performance in Grassland-Thoroughbred.Animals : an open access journal from MDPI · 2025Article
- Advancing the Indian cattle pangenome: characterizing non-reference sequences in Bos indicus.Journal of animal science and biotechnology · 2025Article
- Genome-wide identification of copy number variations in wrinkled skin cases of Xiang pigs.Scientific reports · 2024Article
- Identifying drug candidates for pancreatic ductal adenocarcinoma based on integrative multiomics analysis.Journal of gastrointestinal oncology · 2024Article
- Unveiling the Influence of Copy Number Variations on Genetic Diversity and Adaptive Evolution in China's Native Pig Breeds via Whole-Genome Resequencing.International journal of molecular sciences · 2024Article
- Mapping and functional characterization of structural variation in 1060 pig genomes.Genome biology · 2024Article
- Major impacts of widespread structural variation on sorghum.Genome research · 2024Article
- A Comprehensive Assessment of Ultraviolet-Radiation-Induced Mutations inJournal of fungi (Basel, Switzerland) · 2024Article
- Pan-genome analysis of 13 Malus accessions reveals structural and sequence variations associated with fruit traits.Nature communications · 2023Article
- Genome-wide identification of candidate copy number polymorphism genes associated with complex traits of Tibetan-sheep.Scientific reports · 2023Article
- Gene copy number variation and pediatric mental health/neurodevelopment in a general population.Human molecular genetics · 2023Article
- Large-scale detection and characterization of interchromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype data sets.Genome research · 2023Article
- TowardMolecular breeding : new strategies in plant improvement · 2023Article
- Frequent copy number variants in a cohort of Mexican-Mestizo individuals.Molecular cytogenetics · 2023Article
133 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
8 authors.
Funding
Abstract
There has been an explosion of data describing newly recognized structural variants in the human genome. In the flurry of reporting, there has been no standard approach to collecting the data, assessing its quality or describing identified features. This risks becoming a rampant problem, in particular with respect to surveys of copy number variation and their application to disease studies. Here, we consider the challenges in characterizing and documenting genomic structural variants. From this, we derive recommendations for standards to be adopted, with the aim of ensuring the accurate presentation of this form of genetic variation to facilitate ongoing research.
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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.