CNV variant
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Related entities (64)
Mentioned in (106)
Papers in which this entity is mentioned.
- Genome modelling and design across all domains of life with Evo 2. (2026)
- Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States. (2025)
- Three-dimensional genome landscape of primary human cancers. (2025)
- ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
- Genome-wide association testing beyond SNPs. (2025)
- Transient loss of Polycomb components induces an epigenetic cancer fate. (2024)
- Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
- Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. (2024)
- The Application of Long-Read Sequencing to Cancer. (2024)
- Combination of genomic instability score and TP53 status for prognosis prediction in lung adenocarcinoma. (2023)
- At the dawn: cell-free DNA fragmentomics and gene regulation. (2022)
- Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
- Circulating Tumor DNA Is Associated with Response and Survival in Patients with Advanced Leiomyosarcoma. (2022)
- Detection of somatic structural variants from short-read next-generation sequencing data. (2021)
- Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
- Genetic scores for adult subcortical volumes associate with subcortical volumes during infancy and childhood. (2021)
- Best practices for variant calling in clinical sequencing. (2020)
- Structural variation in the sequencing era. (2020)
- Immuno-genomic landscape of osteosarcoma. (2020)
- Diverse noncoding mutations contribute to deregulation of cis-regulatory landscape in pediatric cancers. (2020)
- Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
- Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
- Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA. (2020)
- Single-Cell RNA-Seq Reveals AML Hierarchies Relevant to Disease Progression and Immunity. (2019)
- Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
- Exploring the landscape of focal amplifications in cancer using AmpliconArchitect. (2019)
- The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. (2019)
- Structural variant calling: the long and the short of it. (2019)
- Serial liquid biopsies for detection of treatment failure and profiling of resistance mechanisms in -rearranged lung cancer. (2019)
- Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
- Psychiatric Genomics: An Update and an Agenda. (2018)
- What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. (2018)
- Comprehensive Characterization of Cancer Driver Genes and Mutations. (2018)
- Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
- Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (2018)
- Sensitivity to sequencing depth in single-cell cancer genomics. (2018)
- Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
- Picky comprehensively detects high-resolution structural variants in nanopore long reads. (2018)
- Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
- The evolution of tumour phylogenetics: principles and practice. (2017)
- Integrative clustering of multi-level 'omic data based on non-negative matrix factorization algorithm. (2017)
- Integrated analysis of gene expression and copy number identified potential cancer driver genes with amplification-dependent overexpression in 1,454 solid tumors. (2017)
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (2017)
- Orthotopic patient-derived xenografts of paediatric solid tumours. (2017)
- Genome-wide association analysis identifies common variants influencing infant brain volumes. (2017)
- Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
- PGBD5 promotes site-specific oncogenic mutations in human tumors. (2017)
- The impact of structural variation on human gene expression. (2017)
- Extrachromosomal oncogene amplification drives tumour evolution and genetic heterogeneity. (2017)
- New insights into the generation and role of de novo mutations in health and disease. (2016)
- Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers. (2016)
- Recent genetic findings in schizophrenia and their therapeutic relevance. (2015)
- Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. (2015)
- A global reference for human genetic variation. (2015)
- Genetics and genomics of psychiatric disease. (2015)
- Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
- Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. (2014)
- Common DNA methylation alterations in multiple brain regions in autism. (2014)
- Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations. (2014)
- Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
- An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. (2014)
- Genome-wide association discoveries of alcohol dependence. (2014)
- Genetic variability in the regulation of gene expression in ten regions of the human brain. (2014)
- Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. (2014)
- Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genome. (2014)
- Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. (2013)
- Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013)
- Visualizing genomic information across chromosomes with PhenoGram. (2013)
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- Dosage transmission disequilibrium test (dTDT) for linkage and association detection. (2013)
- The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
- Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. (2013)
- The Genotype-Tissue Expression (GTEx) project. (2013)
- The Genotype-Tissue Expression (GTEx) project. (2013)
- Absolute quantification of somatic DNA alterations in human cancer. (2012)
- Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
- cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. (2012)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
- Pathway analysis of genomic data: concepts, methods, and prospects for future development. (2012)
- Novel mutations target distinct subgroups of medulloblastoma. (2012)
- Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. (2012)
- Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data. (2012)
- GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. (2011)
- A hidden Markov model for copy number variant prediction from whole genome resequencing data. (2011)
- High frequencies of de novo CNVs in bipolar disorder and schizophrenia. (2011)
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
- A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
- Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
- Expanding the range of ZNF804A variants conferring risk of psychosis. (2011)
- Brain growth across the life span in autism: age-specific changes in anatomical pathology. (2011)
- Large copy-number variations are enriched in cases with moderate to extreme obesity. (2010)
- Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. (2010)
- BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
- Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. (2009)
- Finding the missing heritability of complex diseases. (2009)
- Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
- Genome-wide association studies in ADHD. (2009)
- The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. (2009)
- Marker selection for genetic case-control association studies. (2009)
- Copy-number-variation and copy-number-alteration region detection by cumulative plots. (2009)
- Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (2009)
- PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)
- Accurate and reliable high-throughput detection of copy number variation in the human genome. (2006)
- Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)
Merged raw entities (17)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| cnv | variant | 93 | 351 |
| insertions | variant | 16 | 30 |
| copy-number variant | variant | 6 | 7 |
| cnv region | variant | 5 | 7 |
| cnv regions | variant | 2 | 2 |
| de novo cnv events | variant | 1 | 1 |
| cnv allele | variant | — | — |
| cnv loci | variant | — | — |
| cnv-related genomic disorder | variant | — | — |
| cnvs >10 kb | variant | — | — |
| cnv studies | variant | — | — |
| non-rare cnv | variant | — | — |
| novel cnv | variant | — | — |
| putative de novo cnv | variant | — | — |
| recurrent cnv | variant | — | — |
| spontaneous cnv | variant | — | — |
| very rare cnv | variant | — | — |