Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Nature reviews genetics

• Publication date

  2007-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/nrg2149PMID 17637735
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Structural variation in the human genome].

  2009cited by this paper
• Single nucleotide polymorphism array analysis of cancer

  2007cited by this paper
• Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer

  2007cited by this paper
• A comprehensive analysis of common copy-number variations in the human genome.

  2007cited by this paper
• Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24

  2007cited by this paper
• Variation in FTO contributes to childhood obesity and severe adult obesity

  2007cited by this paper
• Genomic rearrangements and sporadic disease

  2007cited by this paper
• A Common Allele on Chromosome 9 Associated with Coronary Heart Disease

  2007cited by this paper
• Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes

  2007cited by this paper
• A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity

  2007cited by this paper
• A genome-wide association study identifies novel risk loci for type 2 diabetes

  2007cited by this paper
• FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

  2007cited by this paper
• Chemical characterization of element 112

  2007cited by this paper
• Mapping autism risk loci using genetic linkage and chromosomal rearrangements

  2007cited by this paper
• Genome-wide association study identifies novel breast cancer susceptibility loci

  2007cited by this paper
• Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

  2007cited by this paper
• Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.

  2007cited by this paper
• Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

  2007cited by this paper
• Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels

  2007cited by this paper
• A common variant on chromosome 9p21 affects the risk of myocardial infarction.

  2007cited by this paper
• A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

  2007cited by this paper
• Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

  2007cited by this paper
• Completing the map of human genetic variation

  2007cited by this paper
• Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics.

  2007cited by this paper
• Strong Association of De Novo Copy Number Mutations with Autism

  2007cited by this paper
• Global variation in copy number in the human genome

  2006cited by this paper
• Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

  2006cited by this paper
• Mendelian disorders deserve more attention

  2006cited by this paper
• From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation

  2006cited by this paper
• Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration

  2006cited by this paper
• A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

  2006cited by this paper
• Hereditary pancreatitis caused by triplication of the trypsinogen locus

  2006cited by this paper
• Copy number variation: new insights in genome diversity.

  2006cited by this paper
• Structural variants: changing the landscape of chromosomes and design of disease studies.

  2006cited by this paper
• Common deletion polymorphisms in the human genome

  2006cited by this paper
• Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration.

  2006cited by this paper
• Genome assembly comparison identifies structural variants in the human genome

  2006cited by this paper
• Copy number variants and pharmacogenomics.

  2006cited by this paper
• Structural variation in the human genome

  2006cited by this paper
• A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

  2006cited by this paper
• Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

  2006cited by this paper
• Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.

  2006cited by this paper
• A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.

  2006cited by this paper
• Genetic relatedness analysis: modern data and new challenges

  2006cited by this paper
• Array-based comparative genomic hybridization and copy number variation in cancer research

  2006cited by this paper
• A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

  2006cited by this paper
• Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes

  2006cited by this paper
• APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

  2006cited by this paper
• Identification of disease genes by whole genome CGH arrays.

  2005cited by this paper
• Complement Factor H Polymorphism and Age-Related Macular Degeneration

  2005cited by this paper
• Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration

  2005cited by this paper
• The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

  2005cited by this paper
• Complement Factor H Polymorphism in Age-Related Macular Degeneration

  2005cited by this paper
• A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

  2005cited by this paper
• The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility

  2005cited by this paper
• Regulatory polymorphisms underlying complex disease traits

  2005cited by this paper
• A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes

  2004cited by this paper
• Large-Scale Copy Number Polymorphism in the Human Genome

  2004cited by this paper
• Isolates and their potential use in complex gene mapping efforts.

  2004cited by this paper
• Chromosome 21 and Down syndrome: from genomics to pathophysiology

  2004cited by this paper
• MLPA and MAPH: New techniques for detection of gene deletions

  2004cited by this paper
• Detection of large-scale variation in the human genome

  2004cited by this paper
• alpha-Synuclein locus triplication causes Parkinson's disease.

  2003cited by this paper
• A haplotype map of the human genome

  2003cited by this paper
• A haplotype map of the human genome.

  2003cited by this paper
• α-Synuclein Locus Triplication Causes Parkinson's Disease

  2003cited by this paper
• Molecular mechanisms for genomic disorders.

  2003cited by this paper
• Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

  2002cited by this paper
• Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.

  2002cited by this paper
• RHD gene deletion occurred in the Rhesus box.

  2000cited by this paper
• Measurement of locus copy number by hybridisation with amplifiable probes.

  2000cited by this paper
• Structure of chromosomal duplicons and their role in mediating human genomic disorders.

  2000cited by this paper
• Molecular mechanisms for CMT1A duplication and HNPP deletion.

  1999cited by this paper
• Molecular Mechanisms for CMT1A Duplication and HNPP Deletion

  1999cited by this paper
• The First Twelve Years

  1996cited by this paper
• A comprehensive genetic map of the human genome based on 5,264 microsatellites

  1996cited by this paper
• The 1993–94 Généthon human genetic linkage map

  1994cited by this paper
• A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC).

  1994cited by this paper
• Uniparental disomy revisited: the first twelve years.

  1993cited by this paper
• A second-generation linkage map of the human genome

  1992cited by this paper
• Survey of human and rat microsatellites.

  1992cited by this paper
• DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

  1991cited by this paper
• Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group.

  1991cited by this paper
• The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

  1990cited by this paper
• Large restriction fragments containing poly-TG are highly polymorphic in a variety of vertebrates.

  1990cited by this paper
• Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms.

  1990cited by this paper
• Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 1 of 14)

  1990cited by this paper
• Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

  1989cited by this paper
• Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy

  1989cited by this paper
• Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry.

  1989cited by this paper
• A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

  1989cited by this paper
• Hypervariability of simple sequences as a general source for polymorphic DNA markers.

  1989cited by this paper
• Tandem array of human visual pigment genes at Xq28.

  1988cited by this paper
• Variable number of tandem repeat (VNTR) markers for human gene mapping.

  1987cited by this paper
• Hypervariable ‘minisatellite’ regions in human DNA

  1985cited by this paper
• Individual-specific ‘fingerprints’ of human DNA

  1985cited by this paper
• Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

  1980cited by this paper
• A highly polymorphic locus in human DNA.

  1980cited by this paper
• Triplicated alpha-globin loci in humans.

  1980cited by this paper
• Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

  1978cited by this paper

• Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.

  2026cites this paper
• Chromosome, ploidy analysis, and flow cytometric genome size of caper (Capparis spinosa) medicinal plant

  2025cites this paper
• GWAS Gateway - Transitioning Variants from Association to Causality in Complex Diseases [Commentary on Perturbation of the insomnia WDR90 GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, PIG-Q].

  2024cites this paper
• Genome-wide association study of copy number variations with shank traits in a F2 crossbred chicken population.

  2024cites this paper
• Mechanism of miR-190b with Albumin Nanoparticles as Carrier Mediating Islet β Cells in Gestational Diabetes Mellitus

  2024cites this paper
• An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses

  2024cites this paper
• The 330 risk loci known for systemic lupus erythematosus (SLE): a review

  2024cites this paper
• Copy number variations affecting growth curve parameters in a crossbred chicken population.

  2024cites this paper
• Molecular tools are crucial for malaria elimination

  2024cites this paper
• Frequent copy number variants in a cohort of Mexican-Mestizo individuals

  2023cites this paper
• An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses

  2023cites this paper
• Genomic Landscape of Copy Number Variations and Their Associations with Climatic Variables in the World’s Sheep

  2023cites this paper
• Integrated single-tube operation for rapid and uniform single-cell whole-genome sequencing

  2023cites this paper
• Assessment of copy number variants in three Brazilian locally adapted cattle breeds using whole-genome re-sequencing data.

  2023cites this paper
• GeneToCN: an alignment-free method for gene copy number estimation directly from next-generation sequencing reads

  2023cites this paper
• Characterizing subgenome recombination and chromosomal imbalances in banana varietal lineages

  2023cites this paper
• Whole genome sequencing of simmental cattle for SNP and CNV discovery

  2023cites this paper
• Detection of genome-wide copy number variation in Murrah buffaloes

  2023cites this paper
• Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes

  2023cites this paper
• A crowdsourcing database for the copy-number variation of the Spanish population

  2023cites this paper
• Association between the copy number variation of CCSER1 gene and growth traits in Chinese Capra hircus (goat) populations

  2022cites this paper
• Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans

  2022cites this paper
• Copy number variation of EIF4A2 loci related to phenotypic traits in Chinese cattle

  2022cites this paper
• Computational and Experimental Analysis of Genetic Variants.

  2022cites this paper
• Identification of Copy Number Alterations from Next-Generation Sequencing Data.

  2022cites this paper
• Copy Number Variation Analysis of Euploid Pregnancy Loss

  2022cites this paper
• The Genetic and Molecular Basis of Developmental Language Disorder: A Review

  2022cites this paper
• A COMPREHENSIVE REVIEW ON GENETICS AND ITS IMPACT ON HUMAN DISEASES

  2021cites this paper
• Genomic Variation, Evolvability, and the Paradox of Mental Illness

  2021cites this paper
• Identificação e uso de CNVs na seleção genômica de vacas leiteiras criadas em regiões tropicais

  2021cites this paper
• Copy number variation in the CES1 gene and the risk of non-alcoholic fatty liver in a Chinese Han population

  2021cites this paper
• An Integrative Co-localization (INCO) Analysis for SNV and CNV Genomic Features With an Application to Taiwan Biobank Data

  2021cites this paper
• Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay

  2021cites this paper
• High-resolution genetic mapping reveals cis-regulatory and copy number variation in loci associated with cytochrome P450-mediated detoxification in a generalist arthropod pest

  2021cites this paper
• DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

  2021cites this paper
• Copy number variation of bovine DYNC1I2 gene is associated with body conformation traits in chinese beef cattle.

  2021cites this paper
• Integrated microfluidic systems for genetic analysis

  2021cites this paper
• Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine

  2021cites this paper
• 1 Full title: High-resolution genetic mapping reveals cis-regulatory and copy number variation in 2 loci associated with cytochrome P450-mediated detoxification in a generalist arthropod pest 3 Short title: Regulatory variation underlying cytochrome P450-mediated detoxification

  2021cites this paper
• Estrogen‐related receptor alpha copy number variation is associated with ovarian cancer histological grade

  2021cites this paper
• Genome-wide DNA copy number profiling and bioinformatics analysis of ovarian cancer reveals key genes and pathways associated with distinct invasive/migratory capabilities

  2020cites this paper
• Tissue-Specific eQTL in Zebrafish.

  2020cites this paper
• CRSCNV: A Cross-Model-Based Statistical Approach to Detect Copy Number Variations in Sequence Data

  2020cites this paper
• Tunability enhancement of gene regulatory motifs through competition for regulatory protein resources

  2020cites this paper
• Analysis of copy number variation in dogs implicates genomic structural variation in the development of anterior cruciate ligament rupture

  2020cites this paper
• Genome plasticity in Paramecium bursaria revealed by population genomics

  2020cites this paper
• Unboxing mutations: Connecting mutation types with evolutionary consequences

  2020influential citation
• reconCNV: interactive visualization of copy number data from high-throughput sequencing

  2020cites this paper
• DMSO_A_251359 1695..1701

  2020cites this paper
• Salivary Amylase Gene Copy Number Is Associated with the Obesity and Inflammatory Markers in Children

  2020cites this paper
• Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy

  2020cites this paper
• Copy number variation in the carboxylesterase 1 gene and the risk of non-alcoholic fatty liver in a Chinese Han population-a case control study CURRENT STATUS: POSTED

  2020cites this paper
• Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.

  2020cites this paper
• Regulation of stability and copy number of tandem repeats in Saccharomyces cerevisiae

  2020cites this paper
• Review of Preferential Suspicious Genes in Microtia Patients Through Various Approaches.

  2020cites this paper
• A Path-Deformation Framework for Determining Weighted Genome Rearrangement Distance

  2020cites this paper
• Novel copy number variations of the CHRM3 gene associated with gene expression and growth traits in Chinese Datong yak (Bos grunniens)

  2020cites this paper
• Comparative sequence alignment reveals River Buffalo genomic structural differences compared with cattle.

  2019cites this paper
• Copy Number Variations of Four Y-Linked Genes in Swamp Buffaloes

  2019cites this paper
• Characterising copy number polymorphisms using next generation sequencing data

  2019cites this paper
• Association analysis of SSTR2 copy number variation with cattle stature and its expression analysis in Chinese beef cattle

  2019cites this paper
• Retinal Degeneration: Methods and Protocols

  2019cites this paper
• CNVmap: a method and software to detect copy number variants from linkage mapping data

  2019cites this paper
• CNVmap: A Method and Software To Detect and Map Copy Number Variants from Segregation Data

  2019cites this paper
• Genetic Variations and Precision Medicine.

  2019cites this paper
• Future Preventive Gene Therapy of Polygenic Diseases from a Population Genetics Perspective

  2019cites this paper
• Copy number variation (CNV) in the IGF1R gene across four cattle breeds and its association with economic traits

  2019cites this paper
• Genomic copy number variation of the CHKB gene alters gene expression and affects growth traits of Chinese domestic yak (Bos grunniens) breeds

  2019cites this paper
• Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

  2019cites this paper
• Genome-wide significant risk factors on chromosome 19 and the APOE locus

  2018cites this paper
• Role of DNA copy number variation in dyslipidemias

  2018cites this paper
• Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity

  2018cites this paper
• Chapter 4 – Copy Number Variation

  2018cites this paper
• Functional and evolutionary impact of polymorphic inversions in the human genome

  2018cites this paper
• Multiplex polymerase chain reaction in combination with gel electrophoresis-inductively coupled plasma mass spectrometry: A powerful tool for the determination of gene copy number variations and gene expression changes.

  2018cites this paper
• Applications of genomic copy number variations on livestock: A review

  2018cites this paper
• Copy number variation related disease genes

  2018cites this paper
• INDEX-db: The Indian Exome Reference Database (Phase I)

  2018cites this paper
• Application advances and prospects of CRISPR/Cas9 genome editing in nematodes

  2018cites this paper
• Population genetic copy number variation of CHKB, KLF6, GPC1 and CHRM3 genes in Chinese domestic yak (Bos grunniens) breeds

  2018cites this paper
• AMYCNE: Confident copy number assessment using whole genome sequencing data

  2018cites this paper
• DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data

  2018cites this paper
• Copy Number Variation in SOX6 Contributes to Chicken Muscle Development

  2018cites this paper
• Adding Complexity to Complexity: Gene Family Evolution in Polyploids

  2018cites this paper
• Distribution of copy number variants in the genomes of East African goat breeds

  2018cites this paper
• Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios

  2018cites this paper
• SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

  2017cites this paper
• Exome sequence analysis of siblings affected with Niemann-Pick type C disease

  2017cites this paper
• A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data

  2017cites this paper
• Dosage-Dependent Expression Variation Suppressed on the Drosophila Male X Chromosome

  2017cites this paper
• Genetics of equine insect bite hypersensitivity and genetic diversity in horses

  2017cites this paper
• Copy number variations in the gene space of Picea glauca

  2017cites this paper
• Genetische und epigenetische Aspekte in Bezug auf körperliche Aktivität und Gesundheit

  2017cites this paper
• Epigenetic silencing of genomic structural variations

  2017cites this paper
• Genome-wide DNA copy number analysis in clonally expanded human ovarian cancer cells with distinct invasive/migratory capacities

  2017cites this paper
• High mutation rates explain low population genetic divergence at copy-number-variable loci in Homo sapiens

  2017cites this paper
• CNV-LDC: An Optimized CNV Detection Method for Low Depth of Coverage Data

  2017cites this paper
• Copy Number Variations in Tilapia Genomes

  2017cites this paper
• An Expanded Association Approach for Rare Germline Variants with Copy-Number Alternation

  2017cites this paper
• Detekcija visoko heterozigotnih regija u genomu goveda

  2017cites this paper