DNA Copy Number Variations
"DNA Copy Number Variations" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
|DNA Copy Number Variations
- DNA Copy Number Variations
- DNA Copy Number Variation
- DNA Copy Number Variants
- Copy Number Variants, DNA
- Copy Number Variation, DNA
DNA Copy Number Polymorphisms
- DNA Copy Number Polymorphisms
- DNA Copy Number Polymorphism
- Copy Number Polymorphisms
- Copy Number Polymorphism
- Polymorphism, Copy Number
- Polymorphisms, Copy Number
Below are MeSH descriptors whose meaning is more general than "DNA Copy Number Variations".
Below are MeSH descriptors whose meaning is more specific than "DNA Copy Number Variations".
This graph shows the total number of publications written about "DNA Copy Number Variations" by people in this website by year, and whether "DNA Copy Number Variations" was a major or minor topic of these publications.
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Below are the most recent publications written about "DNA Copy Number Variations" by people in Profiles.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol. 2022 10 06; 5(1):1061.
Single nucleotide polymorphisms and chromosomal copy number variation may impact the Sporothrix brasiliensis antifungal susceptibility and sporotrichosis clinical outcomes. Fungal Genet Biol. 2022 11; 163:103743.
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons. Am J Hum Genet. 2022 08 04; 109(8):1500-1519.
Subtype-specific expression of MELK is partly due to copy number alterations in breast cancer. PLoS One. 2022; 17(6):e0268693.
Recurrent Loss of Heterozygosity in Pancreatic Neuroendocrine Tumors. Am J Surg Pathol. 2022 06 01; 46(6):823-831.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med. 2022 02; 24(2):319-331.
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes. Genome Med. 2021 10 29; 13(1):172.
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. Eur J Paediatr Neurol. 2021 Nov; 35:27-34.
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. J Mol Diagn. 2021 10; 23(10):1324-1333.
Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 06; 27(6):1097-1104.