ArticlePloS one2011
Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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
32 citing papers in PubMed.
- Extensive load of somatic CNVs in the human placenta.Scientific reports · 2015Trial
- Array-Based Comparative Genomic Hybridization for the Detection of Copy Number Alterations in Single Cells.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- Formalin Fixation, Delay to Fixation, and Time in Fixative Adversely Impact Copy Number Variation Analysis by aCGH.Biopreservation and biobanking · 2023Article
- Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?Diagnostics (Basel, Switzerland) · 2022Article
- Variant interpretation: UCSC Genome Browser Recommended Track Sets.Human mutation · 2022Article
- Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias.International journal of molecular sciences · 2022Article
- Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?Journal of neuromuscular diseases · 2020Review
- Integrated genomic analysis of clear cell ovarian cancers identified PRKCI as a potential therapeutic target.Oncotarget · 2017Article
- Clinical interpretation of copy number variants in the human genome.Journal of applied genetics · 2017Review
- Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.BMC genomics · 2017Article
- Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors.Journal of visualized experiments : JoVE · 2016Review
- Assessing the reproducibility of exome copy number variations predictions.Genome medicine · 2016Article
- The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement.Scientific reports · 2016Article
- Human Structural Variation: Mechanisms of Chromosome Rearrangements.Trends in genetics : TIG · 2015Review
- 46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.American journal of medical genetics. Part A · 2015Review
- Improved Detection and Characterization of Copy Number Variations Among Diverse Pig Breeds by Array CGH.G3 (Bethesda, Md.) · 2015Article
- Carbon Substrates: A Stable Foundation for Biomolecular Arrays.Annual review of analytical chemistry (Palo Alto, Calif.) · 2015Review
- Global spectrum of copy number variations reveals genome organizational plasticity and proposes new migration routes.PloS one · 2015Article
- Connecting Anxiety and Genomic Copy Number Variation: A Genome-Wide Analysis in CD-1 Mice.PloS one · 2015Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Accurate and efficient genome-wide detection of copy number variants (CNVs) is essential for understanding human genomic variation, genome-wide CNV association type studies, cytogenetics research and diagnostics, and independent validation of CNVs identified from sequencing based technologies. Numerous, array-based platforms for CNV detection exist utilizing array Comparative Genome Hybridization (aCGH), Single Nucleotide Polymorphism (SNP) genotyping or both. We have quantitatively assessed the abilities of twelve leading genome-wide CNV detection platforms to accurately detect Gold Standard sets of CNVs in the genome of HapMap CEU sample NA12878, and found significant differences in performance. The technologies analyzed were the NimbleGen 4.2 M, 2.1 M and 3×720 K Whole Genome and CNV focused arrays, the Agilent 1×1 M CGH and High Resolution and 2×400 K CNV and SNP+CGH arrays, the Illumina Human Omni1Quad array and the Affymetrix SNP 6.0 array. The Gold Standards used were a 1000 Genomes Project sequencing-based set of 3997 validated CNVs and an ultra high-resolution aCGH-based set of 756 validated CNVs. We found that sensitivity, total number, size range and breakpoint resolution of CNV calls were highest for CNV focused arrays. Our results are important for cost effective CNV detection and validation for both basic and clinical applications.
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