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Copy Number Variation

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Meningiomas: An Overview of the Landscape of Copy Number Alterations in Samples from an Admixed Population

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Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort

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Molecular Subtypes and Prognostic Models for Predicting Prognosis of Lung Adenocarcinoma based on MiRNA-related Genes

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Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis

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Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach

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A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome

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The Use of Single-Cell and Spatial Omics to Study Copy Number Variants

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A fuzzy sequencer for rapid DNA fragment counting and genotyping

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Multi-omics integration analysis reveals the regulatory impact of CNVs for slaughter traits in cattle

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Detecting Population-Differentiation Copy Number Variants in Human Population Tree by Sparse Group Selection

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Down syndrome: a model for chromosome abnormalities

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Sex Chromosome Translocations

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Primer in Genetics and Genomics, Article 3–Explaining Human Diversity: The Role of DNA

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In vivo and in vitro ageing results in accumulation of de novo copy number variations in bulls

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The pan-cancer analysis of gain-of-functional mutations to identify the common oncogenic signatures in multiple cancers

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Association study and expression analysis of GPC1 gene copy number variation in Chinese Datong yak (Bos grunniens) breed

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Role of Copy Number Variations in ADHD

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A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation

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Novel variants identified in a three‑generation family with concomitant exotropia

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Analysis of copy number variants detected by sequencing in spontaneous abortion

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Detection of de novo copy number deletions from targeted sequencing of trios

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Biological Resources for Genomic Investigation in the Vervet Monkey (Chlorocebus)

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GENE COPY NUMBER VARIATION AS A FACTOR OF RADIORESISTANCE OF COLON ADENOCARCINOMA CELLS OF THE LINE HT-29

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Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses

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The Genetics of Autism

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Genome-wide Copy Number Variations in a Large Cohort of Bantu African ChildrenPreprint

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Cytogenomic Changes in Sporadic Colorectal Cancer and Surrounding Nonneoplastic Tissues: The Relevance of Subtelomeric Copy Number VariationsPreprint

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Simulation-based inference of evolutionary parameters from adaptation dynamics using neural networksPreprint

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Bio-inertia resonates life into evolutionPreprint

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Identification of prognostic signature based on the copy number variation (CNV) and expression in acute myeloid leukemiaPreprint

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Non-Allelic Homologous Recombination Leading to Premature Transcription Termination in the ARSB Gene as a Novel Cause of Mucopolysaccharidosis Type VIPreprint

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The Iberian Roma genetic variant server; population structure, susceptibility to disease and adaptive traitsPreprint

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Causes of Congenital Malformations

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Analysis Pipelines and a Platform Solution for Next‐Generation Sequencing Data

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Accurate detection of CNV based on single-nucleotide variants recalibration and image classification from whole genome sequencing

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The copy number variation of GSTM1 as a promising prognostic factor of oral squamous cell carcinoma

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Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes

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Computational Approaches: A New Frontier in Cancer Research

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A Comprehensive Review of Schizophrenia and Antipsychotic Metabolism as a Predictor of Treatment Response

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Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability

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Association between the copy number variations of Methyl-CpG binding domain family and schizophrenia

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Rare copy number variant analysis in case–control studies using snp array data: a scalable and automated data analysis pipeline

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The landscape of cell lineage tracing

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Inferring the Selective History of CNVs Using a Maximum Likelihood Model

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A mode of action protein based approach that characterizes the relationships among most major diseases

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Patient Preferences and Understanding of Genome‐Wide Cell‐Free DNA Screening for Foetal Chromosomal Imbalances: A Survey Study

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The Evolution and expression analysis of USP gene family in Solanum

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Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome

Silva, C., Ferrão, J., Marques, B., Pedro, S., Correia, H., Valente, A., Rodrigues, A. S., & Vieira, L. (2025) · Molecular Cytogenetics · doi:10.1186/s13039-025-00721-8 · Cited by 1

Copy number loss Of APP cause thoracic aortic dissection

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Identification of copy number variations through whole genome resequencing between Jiuyishan and Hyplus rabbits

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Olfactory Receptor Gene Deletions: A Novel Genetic Findings in Idiopathic Prepubertal Gynecomastia and Juvenile Macromastia

Baş, F., Karaman, B., Kardelen, A. D., Heidargholizadeh, S., Najaflı, A., Toksoy, G., Koc, C., Poyrazoğlu, Ş., Yıldız, M., Uyguner, Z. O., et al. (2025) · Hormone Research in Paediatrics · doi:10.1159/000549625 · Cited by 1

Algorithm for DNA copy number variation detection with read depth and paramorphism information

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Language Gene Network Patterns May Facilitate Relationship Setting-up between Language Genotypes and Students' Class-Performance

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Building a Research-Quality Copy Number Variation Data Repository for Translational Research

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Life History of Savanna Monkeys

Turner, T. R., Schmitt, C. A., & Cramer, J. D. (2019) · Cambridge University Press eBooks · doi:10.1017/9781139019941.014 · Cited by 1

Preimplantation Genetic Diagnosis

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0022 · Cited by 1

Xenopus: A Model to Study Natural Genetic Variation and Its Disease Implications

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Fundamental principles in cardiovascular genetics

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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

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Personalized medicine: the role of sequencing technologies in diagnostics, prediction and selection of treatment of monogenous and multifactorial diseases

Glotov, O., Chernov, A., Fedyakov, M., Larionova, V., Zaretsky, A., Donnikov, M., & Glotov, A. (2022) · Biological Communications · doi:10.21638/spbu03.2022.403 · Cited by 2

A comparison of algorithms for identifying copy number variants in family-based whole-exome sequencing data and its implications in inheritance pattern analysis

Ye, B., Tang, X., Liao, S., & Ding, K. (2023) · Gene · doi:10.1016/j.gene.2023.147237 · Cited by 2

Congenital heart diseases: frequency, causes, predictors of placental and fetal disorders

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Mitochondrial disorders: Nuclear-encoded gene defects

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Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy

Corradi, Z., Dhaenens, C., Grunewald, O., Kocabaş, I. S., Meunier, I., Banfi, S., Karali, M., Cremers, F. P. M., & Hitti‐Malin, R. J. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25115940 · Cited by 1

Introduction to genomic and molecular biology

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Targeted genome duplications by amplification editing (AE)

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SV4GD: a comprehensive structural variation database specially for genetic diseases

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Functional Analysis of Complex Structural and Splice‐Altering Variants in the ARSB Gene Towards the Personalized Antisense‐Based Therapy for Mucopolysaccharidosis Type VI Patients

Bychkov, I. O., Filatova, A. Y., Baydakova, G., Sikora, N., Garifullina, E., Bykova, A., Tabakov, V. Y., Skretnev, A. S., Skoblov, M. Y., & Zakharova, E. Y. (2025) · Human Mutation · doi:10.1155/humu/2250030 · Cited by 1

Structural variants, much ado about nothing?

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Uniparental Disomy and Disorders of Imprinting

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0018 · Cited by 1

Sex Chromosome Aneuploidy and Structural Rearrangement

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0015 · Cited by 1

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

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Identification of Primary and Metastatic Melanoma based on Copy Number Variation

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Ethnoprimatology and Savanna Monkeys

Turner, T. R., Schmitt, C. A., & Cramer, J. D. (2019) · Cambridge University Press eBooks · doi:10.1017/9781139019941.019 · Cited by 1

Robertsonian Translocations

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0007 · Cited by 2

General Designs Reveal a Purine-Pyrimidine Structural Code in Human DNA

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CNV Neurons Are Rare in Aged Human NeocortexPreprint

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