DNA Copy Number Variations
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Subject Areas on Research
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A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.
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A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers.
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A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.
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A genome-wide scan for common alleles affecting risk for autism.
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A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
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A nCounter CNV Assay to Detect HER2 Amplification: A Correlation Study with Immunohistochemistry and In Situ Hybridization in Advanced Gastric Cancer.
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
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A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.
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A statistical framework for determination of minimal plasmid copy number required for transgene expression in mammalian cells.
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APOE4 Copy Number-Dependent Proteomic Changes in the Cerebrospinal Fluid.
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ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins.
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An evaluation of copy number variation detection tools from whole-exome sequencing data.
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An integrative approach identified genes associated with drug response in gastric cancer.
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Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.
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Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism.
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Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis.
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Attenuation of the retinoblastoma pathway in pancreatic neuroendocrine tumors due to increased cdk4/cdk6.
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Bayesian joint analysis of heterogeneous genomics data.
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CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
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Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.
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Circulating tumor DNA alterations in patients with metastatic castration-resistant prostate cancer.
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Comparative Genomic Analysis of the Pheromone Receptor Class 1 Family (V1R) Reveals Extreme Complexity in Mouse Lemurs (Genus, Microcebus) and a Chromosomal Hotspot across Mammals.
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Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays.
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Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas.
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Comprehensive molecular portraits of human breast tumours.
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Computational correction of copy number effect improves specificity of CRISPR-Cas9 essentiality screens in cancer cells.
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Contributions of Mamu-A*01 status and TRIM5 allele expression, but not CCL3L copy number variation, to the control of SIVmac251 replication in Indian-origin rhesus monkeys.
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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
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Copy Number Loss of 17q22 Is Associated with Enzalutamide Resistance and Poor Prognosis in Metastatic Castration-Resistant Prostate Cancer.
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Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome.
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Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.
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Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest.
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Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis.
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Copy number variation is associated with gene expression change in archaea.
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Copy number variation of KIR genes influences HIV-1 control.
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Cross-species DNA copy number analyses identifies multiple 1q21-q23 subtype-specific driver genes for breast cancer.
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DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.
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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
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Detectable clonal mosaicism from birth to old age and its relationship to cancer.
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Detecting differential copy number variation between groups of samples.
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Differential copy number aberrations in novel candidate genes associated with progression from in situ to invasive ductal carcinoma of the breast.
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Discordant and heterogeneous clinically relevant genomic alterations in circulating tumor cells vs plasma DNA from men with metastatic castration resistant prostate cancer.
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
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Effects of early life exposure to ultraviolet C radiation on mitochondrial DNA content, transcription, ATP production, and oxygen consumption in developing Caenorhabditis elegans.
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Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.
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Epigenome-wide association study of mitochondrial genome copy number.
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Erythropoietin receptor contributes to melanoma cell survival in vivo.
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Evidence for involvement of GNB1L in autism.
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Evolutionary and biomedical insights from a marmoset diploid genome assembly.
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Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas.
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Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas.
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From the Cover: Arsenite Uncouples Mitochondrial Respiration and Induces a Warburg-like Effect in Caenorhabditis elegans.
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Functional impact of global rare copy number variation in autism spectrum disorders.
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Gene copy-number variation in haploid and diploid strains of the yeast Saccharomyces cerevisiae.
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General olfactory sensitivity database (GOSdb): candidate genes and their genomic variations.
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Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.
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Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk.
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Genome-wide association identifies diverse causes of common variable immunodeficiency.
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Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients.
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Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
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Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients.
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Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer.
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Genomic alterations in head and neck squamous cell carcinoma determined by cancer gene-targeted sequencing.
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Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial.
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Genomic profiles specific to patient ethnicity in lung adenocarcinoma.
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Global analysis of genomic instability caused by DNA replication stress in Saccharomyces cerevisiae.
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Heterogeneity within the PF-EPN-B ependymoma subgroup.
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Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
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Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes.
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Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer.
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Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer.
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Integrated genomic analyses identify ERRFI1 and TACC3 as glioblastoma-targeted genes.
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Integrated genomic characterization of endometrial carcinoma.
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Integrating common and rare genetic variation in diverse human populations.
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Integrative molecular profiling of routine clinical prostate cancer specimens.
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LCCC 1025: a phase II study of everolimus, trastuzumab, and vinorelbine to treat progressive HER2-positive breast cancer brain metastases.
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LINC00467, Driven by Copy Number Amplification and DNA Demethylation, Is Associated with Oxidative Lipid Metabolism and Immune Infiltration in Breast Cancer.
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Latent factor analysis to discover pathway-associated putative segmental aneuploidies in human cancers.
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Loss of PTPRM associates with the pathogenic development of colorectal adenoma-carcinoma sequence.
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MYC or BCL2 copy number aberration is a strong predictor of outcome in patients with diffuse large B-cell lymphoma.
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MYCN amplification drives an aggressive form of spinal ependymoma.
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Molecular and clonal evolution in recurrent metastatic gliosarcoma.
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Molecular profile and copy number analysis of sporadic colorectal cancer in Taiwan.
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Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas.
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Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.
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Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
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New clues to the molecular pathogenesis of Burkitt lymphoma revealed through next-generation sequencing.
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Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution.
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Novel enriched pathways in superficial malignant peripheral nerve sheath tumours and spindle/desmoplastic melanomas.
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PCR-Based Analysis of Mitochondrial DNA Copy Number, Mitochondrial DNA Damage, and Nuclear DNA Damage.
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PCR-Based Determination of Mitochondrial DNA Copy Number in Multiple Species.
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Pan-cancer Convergence to a Small-Cell Neuroendocrine Phenotype that Shares Susceptibilities with Hematological Malignancies.
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Pathogenic Germline Variants in 10,389 Adult Cancers.
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Preanalytical Variables for the Genomic Assessment of the Cellular and Acellular Fractions of the Liquid Biopsy in a Cohort of Breast Cancer Patients.
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Predictors of mitochondrial DNA copy number and damage in a mercury-exposed rural Peruvian population near artisanal and small-scale gold mining: An exploratory study.
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Quantitative PCR-based measurement of nuclear and mitochondrial DNA damage and repair in mammalian cells.
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Risk factors for autism: translating genomic discoveries into diagnostics.
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Robust regression analysis of copy number variation data based on a univariate score.
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SgD-CNV, a database for common and rare copy number variants in three Asian populations.
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Single-cell RNA-seq supports a developmental hierarchy in human oligodendroglioma.
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Social affiliation predicts mitochondrial DNA copy number in female rhesus macaques.
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Subgroup-specific structural variation across 1,000 medulloblastoma genomes.
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Systematic interrogation of 3q26 identifies TLOC1 and SKIL as cancer drivers.
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Targeted long-read sequencing identifies missing disease-causing variation.
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The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.
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The LINK-A lncRNA interacts with PtdIns(3,4,5)P3 to hyperactivate AKT and confer resistance to AKT inhibitors.
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The characterization of twenty sequenced human genomes.
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The correlation of copy number variations with longevity in a genome-wide association study of Han Chinese.
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The genetic landscape of the childhood cancer medulloblastoma.
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The genomic relationship between primary breast carcinomas and their nodal metastases.
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The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.
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The oncogenic properties of EWS/WT1 of desmoplastic small round cell tumors are unmasked by loss of p53 in murine embryonic fibroblasts.
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The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma.
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Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype.
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Using ERDS to infer copy-number variants in high-coverage genomes.
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Validation of an oligo-gene signature for the prognostic stratification of ductal carcinoma in situ (DCIS).
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Variation in chromosome copy number influences the virulence of Cryptococcus neoformans and occurs in isolates from AIDS patients.
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Whole Genomic Copy Number Alterations in Circulating Tumor Cells from Men with Abiraterone or Enzalutamide-Resistant Metastatic Castration-Resistant Prostate Cancer.
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Whole-Genome Analysis Illustrates Global Clonal Population Structure of the Ubiquitous Dermatophyte Pathogen Trichophyton rubrum.
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Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.
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cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.
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Keywords of People
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Berchuck, Andrew,
James M. Ingram Distinguished Professor of Gynecologic Oncology,
Obstetrics and Gynecology, Gynecologic Oncology
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Liu, Yutao,
Adjunct Assistant Professor in the Department of Medicine,
Medicine, Medical Genetics
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McLendon, Roger Edwin,
Professor of Pathology,
Pathology
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Yan, Hai,
Adjunct Professor of Pathology,
Pathology