copy number variation variant
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Related entities (28)
Mentioned in (63)
Papers in which this entity is mentioned.
- LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development. (2025)
- Rapid brain tumor classification from sparse epigenomic data. (2025)
- Three-dimensional genome landscape of primary human cancers. (2025)
- Genome-wide association testing beyond SNPs. (2025)
- At the dawn: cell-free DNA fragmentomics and gene regulation. (2022)
- Nanopore sequencing technology, bioinformatics and applications. (2021)
- Detection of somatic structural variants from short-read next-generation sequencing data. (2021)
- Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
- Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
- Biologically informed deep neural network for prostate cancer discovery. (2021)
- Accucopy: Accurate and Fast Inference of Allele-specific Copy Number Alterations from Low-coverage Low-purity Tumor Sequencing Data (2020)
- Gestational diabetes induces behavioral and brain gene transcription dysregulation in adult offspring. (2020)
- Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
- Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA. (2020)
- Provocative questions in osteosarcoma basic and translational biology: A report from the Children's Oncology Group. (2019)
- Clinical presentation, diagnosis, and management of fetal alcohol spectrum disorder. (2019)
- Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
- Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
- Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome (2017)
- De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (2017)
- Dysregulation of Cortical Neuron DNA Methylation Profile in Autism Spectrum Disorder. (2017)
- The impact of structural variation on human gene expression. (2017)
- Extrachromosomal oncogene amplification drives tumour evolution and genetic heterogeneity. (2017)
- Translating genome-wide association findings into new therapeutics for psychiatry. (2016)
- The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. (2016)
- Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. (2016)
- Clinically relevant genetic biomarkers from the brain in alcoholism with representation on high resolution chromosome ideograms. (2015)
- Genetics and genomics of psychiatric disease. (2015)
- Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. (2014)
- Guidelines for investigating causality of sequence variants in human disease. (2014)
- Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
- Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. (2014)
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (2013)
- A mega-analysis of genome-wide association studies for major depressive disorder. (2013)
- Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013)
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
- A comparative analysis of algorithms for somatic SNV detection in cancer. (2013)
- The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
- Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
- Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. (2012)
- CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
- Epilepsy genetics--past, present, and future. (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)
- Allele-specific copy number analysis of tumors. (2010)
- Genetics of psychiatric disorders methods: molecular approaches. (2010)
- DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing. (2010)
- The psychiatric GWAS consortium: big science comes to psychiatry. (2010)
- The psychiatric GWAS consortium: big science comes to psychiatry. (2010)
- TumorBoost: normalization of allele-specific tumor copy numbers from a single pair of tumor-normal genotyping microarrays. (2010)
- Tackling the widespread and critical impact of batch effects in high-throughput data. (2010)
- Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. (2009)
- Meta-analysis in genome-wide association studies. (2009)
- Finding the missing heritability of complex diseases. (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)
- The changing impact of genes and environment on brain development during childhood and adolescence: initial findings from a neuroimaging study of pediatric twins. (2008)
- Genetic and environmental factors in complex neurodevelopmental disorders. (2007)
- 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)
Merged raw entities (1)
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 |
|---|---|---|---|
| copy number variation | variant | 63 | 86 |