copy number variants variant

Aliases

CNV, CNVs, copy number variants, de novo CNVs, inherited CNVs, rare variants

External links

ClinVar

No related entities found.

Mentioned in (26)

Papers in which this entity is mentioned.

• Cell-Free DNA Fragmentomics: The Novel Promising Biomarker. (2023)
• Best practices for variant calling in clinical sequencing. (2020)
• SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
• Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy. (2019)
• The ENCODE Blacklist: Identification of Problematic Regions of the Genome. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Human Genetics of Addiction: New Insights and Future Directions. (2018)
• Statistical algorithms improve accuracy of gene fusion detection. (2017)
• The impact of structural variation on human gene expression. (2017)
• Child psychiatry branch of the National Institute of Mental Health longitudinal structural magnetic resonance imaging study of human brain development. (2015)
• Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
• The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation. (2014)
• Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. (2014)
• Common biological networks underlie genetic risk for alcoholism in African- and European-American populations. (2013)
• Hand in glove: brain and skull in development and dysmorphogenesis. (2013)
• Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
• The genetics of alcohol dependence: advancing towards systems-based approaches. (2012)
• CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
• Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. (2012)
• Detectable clonal mosaicism from birth to old age and its relationship to cancer. (2012)
• Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (2011)
• Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization. (2011)
• The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. (2011)
• The genetic interpretation of area under the ROC curve in genomic profiling. (2010)
• Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (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)

Merged raw entities (1)

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