 Genetic Variation
"Genetic Variation" 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.
Genotypic differences observed among individuals in a population.
| Descriptor ID |
D014644
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| MeSH Number(s) |
G05.365
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| Concept/Terms |
Genetic Variation- Genetic Variation
- Genetic Variations
- Variations, Genetic
- Variation, Genetic
- Diversity, Genetic
- Diversities, Genetic
- Genetic Diversities
- Genetic Diversity
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Below are MeSH descriptors whose meaning is more general than "Genetic Variation".
Below are MeSH descriptors whose meaning is more specific than "Genetic Variation".
This graph shows the total number of publications written about "Genetic Variation" by people in this website by year, and whether "Genetic Variation" 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 |
|---|
| 1994 | 0 | 1 | 1 | | 1997 | 1 | 0 | 1 | | 1998 | 0 | 1 | 1 | | 1999 | 0 | 2 | 2 | | 2002 | 0 | 1 | 1 | | 2003 | 0 | 1 | 1 | | 2004 | 1 | 3 | 4 | | 2005 | 1 | 4 | 5 | | 2006 | 2 | 1 | 3 | | 2008 | 3 | 1 | 4 | | 2009 | 1 | 1 | 2 | | 2010 | 4 | 5 | 9 | | 2011 | 1 | 2 | 3 | | 2012 | 0 | 4 | 4 | | 2013 | 2 | 9 | 11 | | 2014 | 1 | 4 | 5 | | 2015 | 5 | 4 | 9 | | 2016 | 3 | 6 | 9 | | 2017 | 1 | 7 | 8 | | 2018 | 2 | 2 | 4 | | 2019 | 3 | 4 | 7 | | 2020 | 5 | 3 | 8 | | 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Genetic Variation" by people in Profiles.
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Bonder MJ, Smail C, Gloudemans MJ, Frésard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE, Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet. 2021 03; 53(3):313-321.
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Cummings L, Tucker M, Gibson M, Myers A, Pastinen T, Johnston J, Farrow E, Sampath V. Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections. Pediatrics. 2021 01; 147(1).
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Charlton JR, Tan W, Daouk G, Teot L, Rosen S, Bennett KM, Cwiek A, Nam S, Emma F, Jouret F, Oliveira JP, Tranebjærg L, Frykholm C, Mane S, Hildebrandt F, Srivastava T, Storm T, Christensen EI, Nielsen R. Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Am J Physiol Renal Physiol. 2020 12 01; 319(6):F988-F999.
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Chin CS, Wagner J, Zeng Q, Garrison E, Garg S, Fungtammasan A, Rautiainen M, Aganezov S, Kirsche M, Zarate S, Schatz MC, Xiao C, Rowell WJ, Markello C, Farek J, Sedlazeck FJ, Bansal V, Yoo B, Miller N, Zhou X, Carroll A, Barrio AM, Salit M, Marschall T, Dilthey AT, Zook JM. A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 09 22; 11(1):4794.
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Ferraro NM, Strober BJ, Einson J, Abell NS, Aguet F, Barbeira AN, Brandt M, Bucan M, Castel SE, Davis JR, Greenwald E, Hess GT, Hilliard AT, Kember RL, Kotis B, Park Y, Peloso G, Ramdas S, Scott AJ, Smail C, Tsang EK, Zekavat SM, Ziosi M, Ardlie KG, Assimes TL, Bassik MC, Brown CD, Correa A, Hall I, Im HK, Li X, Natarajan P, Lappalainen T, Mohammadi P, Montgomery SB, Battle A. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science. 2020 09 11; 369(6509).
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Karnes JH, Rettie AE, Somogyi AA, Huddart R, Fohner AE, Formea CM, Ta Michael Lee M, Llerena A, Whirl-Carrillo M, Klein TE, Phillips EJ, Mintzer S, Gaedigk A, Caudle KE, Callaghan JT. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update. Clin Pharmacol Ther. 2021 02; 109(2):302-309.
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Botton MR, Whirl-Carrillo M, Del Tredici AL, Sangkuhl K, Cavallari LH, Agúndez JAG, Duconge J, Lee MTM, Woodahl EL, Claudio-Campos K, Daly AK, Klein TE, Pratt VM, Scott SA, Gaedigk A. PharmVar GeneFocus: CYP2C19. Clin Pharmacol Ther. 2021 02; 109(2):352-366.
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Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).
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Jakubosky D, D'Antonio M, Bonder MJ, Smail C, Donovan MKR, Young Greenwald WW, Matsui H, D'Antonio-Chronowska A, Stegle O, Smith EN, Montgomery SB, DeBoever C, Frazer KA. Properties of structural variants and short tandem repeats associated with gene expression and complex traits. Nat Commun. 2020 06 10; 11(1):2927.
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Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
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