 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.
| Descriptor ID |
D056915
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| MeSH Number(s) |
G05.365.795.297.500
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| Concept/Terms |
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
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 0 | 1 | 1 | | 2011 | 1 | 0 | 1 | | 2013 | 0 | 1 | 1 | | 2014 | 1 | 1 | 2 | | 2015 | 1 | 0 | 1 | | 2016 | 0 | 1 | 1 | | 2017 | 2 | 0 | 2 | | 2018 | 2 | 2 | 4 | | 2019 | 0 | 2 | 2 | | 2020 | 1 | 1 | 2 | | 2021 | 1 | 2 | 3 | | 2022 | 0 | 3 | 3 |
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Below are the most recent publications written about "DNA Copy Number Variations" by people in Profiles.
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Black K, Brenn BR, Gaedigk A, Wanderer JP, Van Driest SL. Pediatric CYP2D6 metabolizer status and post-tonsillectomy nausea and vomiting after ondansetron. Clin Transl Sci. 2023 02; 16(2):269-278.
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Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepanska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz ?, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnys P, Grote P, Odermatt B, Reutter HM, Dworschak GC. X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J Med Genet. 2023 06; 60(6):587-596.
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Cadieux-Dion M, Farrow E, Thiffault I, Cohen ASA, Welsh H, Bartik L, Schwager C, Engleman K, Zhou D, Zhang L, Repnikova E, Amudhavalli SM, Saunders CJ. Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clin Genet. 2022 08; 102(2):136-141.
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Singh R, Cohen ASA, Poulton C, Hjortsh?j TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. Cold Spring Harb Mol Case Stud. 2021 06; 7(3).
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Hongkaew Y, Wang WY, Gaedigk R, Sukasem C, Gaedigk A. Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes. Pharmacogenomics. 2021 06; 22(9):529-541.
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Turner AJ, Aggarwal P, Boone EC, Haidar CE, Relling MV, Derezinski AD, Broeckel U, Gaedigk A. Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization. J Mol Diagn. 2021 05; 23(5):577-588.
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Smith SC, Farooqi MS, Gener MA, Ginn K, Joyce JM, Bendorf TM, Cooley LD. Clinical Validation of Somatic Mutation Detection by the OncoScan CNV Plus Assay. J Mol Diagn. 2021 01; 23(1):29-37.
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Zhang H, Basit A, Wolford C, Chen KF, Gaedigk A, Lin YS, Leeder JS, Prasad B. Normalized Testosterone Glucuronide as a Potential Urinary Biomarker for Highly Variable UGT2B17 in Children 7-18 Years. Clin Pharmacol Ther. 2020 05; 107(5):1149-1158.
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Botton MR, Lu X, Zhao G, Repnikova E, Seki Y, Gaedigk A, Schadt EE, Edelmann L, Scott SA. Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. Hum Mutat. 2019 11; 40(11):e37-e51.
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Caudle KE, Sangkuhl K, Whirl-Carrillo M, Swen JJ, Haidar CE, Klein TE, Gammal RS, Relling MV, Scott SA, Hertz DL, Guchelaar HJ, Gaedigk A. Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group. Clin Transl Sci. 2020 01; 13(1):116-124.
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