ArticleBMC bioinformatics2013
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives.
Article in BMC bioinformatics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02555969 (Minimal Residual Disease as a Possible Predictive Factor for Relapse in Patients With AL Amyloidosis), which is not on this map. Cited by 257 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.
Minimal Residual Disease as a Possible Predictive Factor for Relapse in Patients With AL Amyloidosis
Who cites it
257 citing papers in PubMed.
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Buffering of gene dosage response curves for human complex traits.Cell genomics · 2026Article
- The Pan-Tumor Landscape of Gene Amplifications and Copy Number Amplification Ratio for Established and Emerging Clinical Targets.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- Whole genome copy number variation analysis to detect genomic regions for resistance to Haemonchus contortus in Sheep.BMC genomics · 2026Article
- Targeted next-generation sequencing for copy number variation detection: Recent progress in clinical oncology.Chinese medical journal · 2026Article
- Tyrosine kinase targeting uncovers oncogenic pathway plasticity in Tasmanian devil transmissible cancers.The EMBO journal · 2026Article
- Whole exome sequencing: a new era in prenatal diagnostics.Journal of translational medicine · 2026Article
- CNValidatron: accurate and efficient validation of PennCNV calls using computer vision.BMC bioinformatics · 2026Article
- Genetic risk assessment of pregnancy-associated venous thromboembolism: dual utility of maternal peripheral blood in NIPT and VTE evaluation.BMC pregnancy and childbirth · 2026Article
- Replication stress increases de novo CNVs across the malaria parasite genome.Nucleic acids research · 2026Article
- Comparative Genomic Hybridization (CGH) in Genotoxicology: From the Basics to Modern Approaches.Methods in molecular biology (Clifton, N.J.) · 2026Review
- Results of Multigene Panel Testing, IncludingKidney medicine · 2026Article
- Genome-Wide Detection of Copy Number Variation and Association Studies With Physiological and Anatomical Indicators of Heat Stress Response in Lactating Sows.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026Article
- Genome-wide characterization of copy number variants and their functional relevance in indigenous draught cattle of South Asia.PloS one · 2026Article
- Unravelling the genetic architecture of cardiovascular disease through structural variant detection with whole-genome sequencing.Frontiers in genetics · 2026Review
- Article
- ZIPcnv: accurate and efficient inference of copy number variations from shallow whole-genome sequencing.Bioinformatics (Oxford, England) · 2025Article
- CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer Vision.bioRxiv : the preprint server for biology · 2025Article
- Biochemical and Genomic Underpinnings of Carotenoid Colour Variation Across a Hybrid Zone Between South Asian Flameback Woodpeckers.Molecular ecology · 2025Article
- Replication stress increases de novo CNVs across the malaria parasite genome.bioRxiv : the preprint server for biology · 2025Article
197 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
5 authors.
Funding
Abstract
Copy number variation (CNV) is a prevalent form of critical genetic variation that leads to an abnormal number of copies of large genomic regions in a cell. Microarray-based comparative genome hybridization (arrayCGH) or genotyping arrays have been standard technologies to detect large regions subject to copy number changes in genomes until most recently high-resolution sequence data can be analyzed by next-generation sequencing (NGS). During the last several years, NGS-based analysis has been widely applied to identify CNVs in both healthy and diseased individuals. Correspondingly, the strong demand for NGS-based CNV analyses has fuelled development of numerous computational methods and tools for CNV detection. In this article, we review the recent advances in computational methods pertaining to CNV detection using whole genome and whole exome sequencing data. Additionally, we discuss their strengths and weaknesses and suggest directions for future development.
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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.