Exome
"Exome" 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.
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
Descriptor ID |
D059472
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MeSH Number(s) |
G05.360.340.011
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Exome".
Below are MeSH descriptors whose meaning is more specific than "Exome".
This graph shows the total number of publications written about "Exome" by people in this website by year, and whether "Exome" 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 |
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2011 | 2 | 1 | 3 | 2012 | 2 | 4 | 6 | 2013 | 5 | 9 | 14 | 2014 | 10 | 10 | 20 | 2015 | 7 | 17 | 24 | 2016 | 11 | 12 | 23 | 2017 | 6 | 6 | 12 | 2018 | 3 | 5 | 8 | 2019 | 4 | 3 | 7 | 2020 | 2 | 8 | 10 | 2021 | 1 | 4 | 5 | 2022 | 3 | 1 | 4 | 2023 | 3 | 2 | 5 |
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Below are the most recent publications written about "Exome" by people in Profiles.
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Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry ?, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study. Genet Med. 2024 02; 26(2):101012.
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Malik MA, Saqib MAN, Mientjes E, Acharya A, Alam MR, Wallaard I, Schrauwen I, Bamshad MJ, Santos-Cortez RLP, Elgersma Y, Leal SM, Ansar M. A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. Eur J Hum Genet. 2023 12; 31(12):1447-1454.
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Peljto AL, Blumhagen RZ, Walts AD, Cardwell J, Powers J, Corte TJ, Dickinson JL, Glaspole I, Moodley YP, Vasakova MK, Bendstrup E, Davidsen JR, Borie R, Crestani B, Dieude P, Bonella F, Costabel U, Gudmundsson G, Donnelly SC, Egan J, Henry MT, Keane MP, Kennedy MP, McCarthy C, McElroy AN, Olaniyi JA, O'Reilly KMA, Richeldi L, Leone PM, Poletti V, Puppo F, Tomassetti S, Luzzi V, Kokturk N, Mogulkoc N, Fiddler CA, Hirani N, Jenkins RG, Maher TM, Molyneaux PL, Parfrey H, Braybrooke R, Blackwell TS, Jackson PD, Nathan SD, Porteous MK, Brown KK, Christie JD, Collard HR, Eickelberg O, Foster EE, Gibson KF, Glassberg M, Kass DJ, Kropski JA, Lederer D, Linderholm AL, Loyd J, Mathai SK, Montesi SB, Noth I, Oldham JM, Palmisciano AJ, Reichner CA, Rojas M, Roman J, Schluger N, Shea BS, Swigris JJ, Wolters PJ, Zhang Y, Prele CMA, Enghelmayer JI, Otaola M, Ryerson CJ, Salinas M, Sterclova M, Gebremariam TH, Myll?rniemi M, Carbone RG, Furusawa H, Hirose M, Inoue Y, Miyazaki Y, Ohta K, Ohta S, Okamoto T, Kim DS, Pardo A, Selman M, Aranda AU, Park MS, Park JS, Song JW, Molina-Molina M, Planas-Cerezales L, Westergren-Thorsson G, Smith AV, Manichaikul AW, Kim JS, Rich SS, Oelsner EC, Barr RG, Rotter JI, Dupuis J, O'Connor G, Vasan RS, Cho MH, Silverman EK, Schwarz MI, Steele MP, Lee JS, Yang IV, Fingerlin TE, Schwartz DA. Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants. Am J Respir Crit Care Med. 2023 05 01; 207(9):1194-1202.
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Li Q, Agrawal R, Schmitz-Abe K, Genetti CA, Fernandes MA, Fryou NL, Madden JA, Brownstein CA, Smith EC, Rajabi F, Beggs AH, Agrawal PB. Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. Eur J Hum Genet. 2023 06; 31(6):712-715.
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Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, Sebat JL, Gleeson JG. Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nat Biotechnol. 2023 06; 41(6):870-877.
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Young KL, Fisher V, Deng X, Brody JA, Graff M, Lim E, Lin BM, Xu H, Amin N, An P, Aslibekyan S, Fohner AE, Hidalgo B, Lenzini P, Kraaij R, Medina-Gomez C, Prokic I, Rivadeneira F, Sitlani C, Tao R, van Rooij J, Zhang D, Broome JG, Buth EJ, Heavner BD, Jain D, Smith AV, Barnes K, Boorgula MP, Chavan S, Darbar D, De Andrade M, Guo X, Haessler J, Irvin MR, Kalyani RR, Kardia SLR, Kooperberg C, Kim W, Mathias RA, McDonald ML, Mitchell BD, Peyser PA, Regan EA, Redline S, Reiner AP, Rich SS, Rotter JI, Smith JA, Weiss S, Wiggins KL, Yanek LR, Arnett D, Heard-Costa NL, Leal S, Lin D, McKnight B, Province M, van Duijn CM, North KE, Cupples LA, Liu CT. Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants. HGG Adv. 2023 01 12; 4(1):100163.
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Brady SW, Roberts KG, Gu Z, Shi L, Pounds S, Pei D, Cheng C, Dai Y, Devidas M, Qu C, Hill AN, Payne-Turner D, Ma X, Iacobucci I, Baviskar P, Wei L, Arunachalam S, Hagiwara K, Liu Y, Flasch DA, Liu Y, Parker M, Chen X, Elsayed AH, Pathak O, Li Y, Fan Y, Michael JR, Rusch M, Wilkinson MR, Foy S, Hedges DJ, Newman S, Zhou X, Wang J, Reilly C, Sioson E, Rice SV, Pastor Loyola V, Wu G, Rampersaud E, Reshmi SC, Gastier-Foster J, Guidry Auvil JM, Gesuwan P, Smith MA, Winick N, Carroll AJ, Heerema NA, Harvey RC, Willman CL, Larsen E, Raetz EA, Borowitz MJ, Wood BL, Carroll WL, Zweidler-McKay PA, Rabin KR, Mattano LA, Maloney KW, Winter SS, Burke MJ, Salzer W, Dunsmore KP, Angiolillo AL, Crews KR, Downing JR, Jeha S, Pui CH, Evans WE, Yang JJ, Relling MV, Gerhard DS, Loh ML, Hunger SP, Zhang J, Mullighan CG. The genomic landscape of pediatric acute lymphoblastic leukemia. Nat Genet. 2022 09; 54(9):1376-1389.
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Wojcik GL, Murphy J, Edelson JL, Gignoux CR, Ioannidis AG, Manning A, Rivas MA, Buyske S, Hendricks AE. Opportunities and challenges for the use of common controls in sequencing studies. Nat Rev Genet. 2022 11; 23(11):665-679.
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Chin HL, Gazzaz N, Huynh S, Handra I, Warnock L, Moller-Hansen A, Boerkoel P, Jacobsen JOB, du Souich C, Zhang N, Shefchek K, Prentice LM, Washington N, Haendel M, Armstrong L, Clarke L, Li WL, Smedley D, Robinson PN, Boerkoel CF. The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice. Genet Med. 2022 07; 24(7):1512-1522.
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Ware SM, Bhatnagar S, Dexheimer PJ, Wilkinson JD, Sridhar A, Fan X, Shen Y, Tariq M, Schubert JA, Colan SD, Shi L, Canter CE, Hsu DT, Bansal N, Webber SA, Everitt MD, Kantor PF, Rossano JW, Pahl E, Rusconi P, Lee TM, Towbin JA, Lal AK, Chung WK, Miller EM, Aronow B, Martin LJ, Lipshultz SE. The genetic architecture of pediatric cardiomyopathy. Am J Hum Genet. 2022 02 03; 109(2):282-298.
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