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																		 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 |  
						| MeSH Number(s) | G05.360.340.011 |  
						| Concept/Terms |  |  
				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 | 
|---|
 | 2011 | 2 | 1 | 3 |  | 2012 | 2 | 4 | 6 |  | 2013 | 5 | 10 | 15 |  | 2014 | 11 | 11 | 22 |  | 2015 | 9 | 20 | 29 |  | 2016 | 13 | 16 | 29 |  | 2017 | 7 | 5 | 12 |  | 2018 | 4 | 6 | 10 |  | 2019 | 4 | 5 | 9 |  | 2020 | 1 | 8 | 9 |  | 2021 | 1 | 5 | 6 |  | 2022 | 4 | 3 | 7 |  | 2023 | 3 | 3 | 6 |  | 2025 | 1 | 1 | 2 | 
 
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				Below are the most recent publications written about "Exome" by people in Profiles. 		
					
								
								Abraham J, Domenyuk V, Perdigones N, Klimov S, Antani S, Yoshino T, Heath EI, Lou E, Liu SV, Marshall JL, El-Deiry WS, Shields AF, Dietrich MF, Nakamura Y, Fujisawa T, Demetri GD, Barker A, Xiu J, Sacchetti DA, Stahl S, Hahn-Lowry R, Stark A, Swensen J, Poste G, Halbert DD, Oberley M, Radovich M, Sledge GW, Spetzler DB. Validation of an AI-enabled exome/transcriptome liquid biopsy platform for early detection, MRD, disease monitoring, and therapy selection for solid tumors. Sci Rep. 2025 Jul 01; 15(1):21173.
								Merz LM, Kolvenbach CM, Wang C, Mertens ND, Seltzsam S, Mansour B, Zheng B, Schneider S, Schierbaum L, Hölzel S, Salmanullah D, Pantel D, Kalkar G, Connaughton DM, Mann N, Wu CW, Kause F, Nakayama M, Dai R, Schneider R, Buerger F, Nicolas-Frank C, Yousef K, Lemberg K, Saida K, Yu S, Elmubarak I, Franken GAC, Lomjansook K, Braun A, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Awad HS, Eid LA, El Desoky S, Shalaby MA, Kari JA, Ooda S, Fathy HM, Soliman NA, Nabhan M, Abdelrahman S, Hilger AC, Mane SM, Ferguson MA, Tasic V, Shril S, Hildebrandt F. Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families. Genet Med. 2025 Jul; 27(7):101432.
								Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data. Hum Genet. 2024 May; 143(5):649-666.
								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.
								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.
								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.
								Leung ML, Woodhull W, Uggenti C, Schord S, Mato RP, Rodriguez DP, Ream M, Crow YJ, Mori M. Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Gouti?res syndrome. Eur J Med Genet. 2023 Apr; 66(4):104731.
								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.
								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.
								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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