ReviewGenome medicine2012
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.
Review in Genome medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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
35 citing papers in PubMed, 74 citations in OpenAlex.
- BICEP: an extension to indels and copy number variants for rare variant prioritisation in pedigree analysis.bioRxiv : the preprint server for biology · 2026Article
- Comparative Genomic Hybridization (CGH) in Genotoxicology: From the Basics to Modern Approaches.Methods in molecular biology (Clifton, N.J.) · 2026Review
- Array comparative genomic hybridisation in haematological malignancies: A comprehensive review.African journal of laboratory medicine · 2026Review
- Article
- The diagnostic yield of molecular karyotyping: a retrospective single-center study.Croatian medical journal · 2025Article
- Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery.Brain & spine · 2025Review
- Radiogenomics Pilot Study: Association Between Radiomics and Single Nucleotide Polymorphism-Based Microarray Copy Number Variation in Diagnosing Renal Oncocytoma and Chromophobe Renal Cell Carcinoma.International journal of molecular sciences · 2024Article
- Genomic Mosaicism of the Brain: Origin, Impact, and Utility.Neuroscience bulletin · 2024Review
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants inInternational journal of molecular sciences · 2022Article
- Rare copy number variation in posttraumatic stress disorder.Molecular psychiatry · 2022Article
- TAaCGH Suite for Detecting Cancer-Specific Copy Number Changes Using Topological Signatures.Entropy (Basel, Switzerland) · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Differential Private Deep Learning Models for Analyzing Breast Cancer Omics Data.Frontiers in oncology · 2022Article
- Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform.Human genomics · 2021Article
- Review
- Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.Journal of medical genetics · 2020Article
- Challenges in identifying large germline structural variants for clinical use by long read sequencing.Computational and structural biotechnology journal · 2020Review
- Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing.International journal of molecular sciences · 2019Article
- A machine-learning approach for accurate detection of copy number variants from exome sequencing.Genome research · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variation (CNV) analysis has had a major impact on the field of medical genetics, providing a mechanism to identify disease-causing genomic alterations in an unprecedented number of diseases and phenotypes. CNV analysis is now routinely used in the clinical diagnostic laboratory, and has led to a significant increase in the detection of chromosomal abnormalities. These findings are used for prenatal decision making, clinical management and genetic counseling. Although a powerful tool to identify genomic alterations, CNV analysis may also result in the detection of genomic alterations that have unknown clinical significance or reveal unintended information. This highlights the importance of informed consent and genetic counseling for clinical CNV analysis. This review examines the advantages and limitations of CNV discovery in the clinical diagnostic laboratory, as well as the impact on the clinician and family.
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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.