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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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
MeSH Number(s)	G05.365.795.297.500
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 DNA Copy Number Changes DNA Copy Number Changes DNA Copy Number Change Copy Number Changes, DNA

Below are MeSH descriptors whose meaning is more general than "DNA Copy Number Variations".

Biological Sciences [G]
Genetic Phenomena [G05]
Genetic Variation [G05.365]
Polymorphism, Genetic [G05.365.795]
Genomic Structural Variation [G05.365.795.297]
DNA Copy Number Variations [G05.365.795.297.500]

Below are MeSH descriptors whose meaning is related to "DNA Copy Number Variations".

Below are MeSH descriptors whose meaning is more specific than "DNA Copy Number Variations".

publications

Timeline | Most Recent

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.

Bar chart showing 47 publications over 15 distinct years, with a maximum of 9 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2010	1	0	1
2011	1	0	1
2012	2	0	2
2013	1	1	2
2014	2	3	5
2015	0	5	5
2016	1	2	3
2017	2	4	6
2018	0	3	3
2019	1	2	3
2020	2	7	9
2021	1	1	2
2022	0	2	2
2023	0	2	2
2024	0	1	1

Below are the most recent publications written about "DNA Copy Number Variations" by people in Profiles.

Di Cosimo S, Silvestri M, De Marco C, Calzoni A, De Santis MC, Carnevale MG, Reduzzi C, Cristofanilli M, Cappelletti V. Low-pass whole genome sequencing of circulating tumor cells to evaluate chromosomal instability in triple-negative breast cancer. Sci Rep. 2024 09 03; 14(1):20479.

View in: PubMed
Sklar BA, Pisuchpen P, Bareket M, Milman T, Eagle RC, Minor J, Procopio R, Capasso J, Levin AV, Hammersmith K. Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome. Cornea. 2023 Dec 01; 42(12):1572-1577.

View in: PubMed
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circ Genom Precis Med. 2023 04; 16(2):e003791.

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Davis AA, Gerratana L, Clifton K, Medford AJ, Velimirovic M, Hensing WL, Bucheit L, Shah AN, D'Amico P, Reduzzi C, Zhang Q, Dai CS, Denault EN, Bagegni NA, Opyrchal M, Ademuyiwa FO, Bose R, Gradishar WJ, Behdad A, Ma CX, Bardia A, Cristofanilli M. Circulating tumour DNA characterisation of invasive lobular carcinoma in patients with metastatic breast cancer. EBioMedicine. 2022 Dec; 86:104316.

View in: PubMed
Shah AN, Sunderraj A, Finkelman B, See SH, Davis AA, Gerratana L, Wehbe F, Katam N, Mahalingam D, Gradishar WJ, Behdad A, Blanco L, Cristofanilli M. Positive predictive value of ERBB2 copy number gain by tissue or circulating tumor DNA next-generation sequencing across advanced cancers. Oncotarget. 2022; 13:273-280.

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Andrews JM, Pyfrom SC, Schmidt JA, Koues OI, Kowalewski RA, Grams NR, Sun JJ, Berman LR, Duncavage EJ, Lee YS, Cashen AF, Oltz EM, Payton JE. Loss of synergistic transcriptional feedback loops drives diverse B-cell cancers. EBioMedicine. 2021 Sep; 71:103559.

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Latypova X, Creadore SG, Dahan-Oliel N, Gustafson AG, Wei-Hung Hwang S, Bedard T, Shazand K, van Bosse HJP, Giampietro PF, Dieterich K. A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita. Genes (Basel). 2021 07 08; 12(7).

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Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P. Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. Sci Rep. 2020 11 16; 10(1):19892.

View in: PubMed
Nees SN, Chung WK. Genetic Basis of Human Congenital Heart Disease. Cold Spring Harb Perspect Biol. 2020 09 01; 12(9).

View in: PubMed
Milman T, Ida CM, Zhang PJL, Eagle RC. Gene Fusions in Ocular Adnexal Tumors. Am J Ophthalmol. 2021 01; 221:211-225.

View in: PubMed

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