Whole Exome Sequencing

"Whole Exome Sequencing" 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

Techniques to determine the complete complement of sequences of all EXONS of an organism or individual.

Descriptor ID	D000073359
MeSH Number(s)	E05.393.760.700.825.500
Concept/Terms	Whole Exome Sequencing Whole Exome Sequencing Exome Sequencing, Whole Exome Sequencings, Whole Sequencing, Whole Exome Sequencings, Whole Exome Whole Exome Sequencings Complete Exome Sequencing Complete Exome Sequencings Exome Sequencing, Complete Exome Sequencings, Complete Sequencing, Complete Exome Sequencings, Complete Exome Whole Transcriptome Sequencing Whole Transcriptome Sequencing Sequencing, Whole Transcriptome Sequencings, Whole Transcriptome Transcriptome Sequencing, Whole Transcriptome Sequencings, Whole Whole Transcriptome Sequencings Complete Transcriptome Sequencing Complete Transcriptome Sequencings Sequencing, Complete Transcriptome Sequencings, Complete Transcriptome Transcriptome Sequencing, Complete Transcriptome Sequencings, Complete

Below are MeSH descriptors whose meaning is more general than "Whole Exome Sequencing".

Analytical, Diagnostic and Therapeutic Techniques and Equipment [E]
Investigative Techniques [E05]
Genetic Techniques [E05.393]
Sequence Analysis [E05.393.760]
Sequence Analysis, DNA [E05.393.760.700]
Whole Genome Sequencing [E05.393.760.700.825]
Whole Exome Sequencing [E05.393.760.700.825.500]

Below are MeSH descriptors whose meaning is related to "Whole Exome Sequencing".

Below are MeSH descriptors whose meaning is more specific than "Whole Exome Sequencing".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Whole Exome Sequencing" by people in this website by year, and whether "Whole Exome Sequencing" was a major or minor topic of these publications.

Bar chart showing 30 publications over 7 distinct years, with a maximum of 7 publications in 2018 and 2019

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

Year	Major Topic	Minor Topic	Total
2016	2	1	3
2017	1	3	4
2018	1	6	7
2019	2	5	7
2020	1	5	6
2021	0	2	2
2022	0	1	1

Below are the most recent publications written about "Whole Exome Sequencing" by people in Profiles.

Walsh M, West K, Taylor JA, Thompson BA, Hopkins A, Sexton A, Ragunathan A, Verma KP, Panetta J, Matotek E, Fahey MC, Christie M, Winship IM, Trainer AH, James PA. Real world outcomes and implementation pathways of exome sequencing in an adult genetic department. Genet Med. 2022 07; 24(7):1536-1544.

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Tran NH, Nguyen Thi TH, Tang HS, Hoang LP, Nguyen TL, Tran NT, Trinh TN, Nguyen VT, Nguyen BH, Nguyen HT, Doan LP, Phan NM, Nguyen KT, Nguyen HL, Quach MT, Nguyen TT, Tran VU, Tran DV, Nguyen QT, Do TT, Lam NV, Cao Thi Ngoc P, Truong DK, Nguyen HN, Phan MD, Giang H. Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing. Hum Mutat. 2021 10; 42(10):1229-1238.

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Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L. Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. JNCI Cancer Spectr. 2021 04; 5(2).

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Zanazzi G, Liechty BL, Pendrick D, Krasnozhen-Ratush O, Snuderl M, Allen JC, Garvin JH, Mansukhani MM, Roth KA, Hsiao SJ. Diffuse midline glioma with novel, potentially targetable, FGFR2-VPS35 fusion. Cold Spring Harb Mol Case Stud. 2020 10; 6(5).

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Teerlink CC, Jurynec MJ, Hernandez R, Stevens J, Hughes DC, Brunker CP, Rowe K, Grunwald DJ, Facelli JC, Cannon-Albright LA. A role for the MEGF6 gene in predisposition to osteoporosis. Ann Hum Genet. 2021 03; 85(2):58-72.

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Wong M, Mayoh C, Lau LMS, Khuong-Quang DA, Pinese M, Kumar A, Barahona P, Wilkie EE, Sullivan P, Bowen-James R, Syed M, Martincorena I, Abascal F, Sherstyuk A, Bolanos NA, Baber J, Priestley P, Dolman MEM, Fleuren EDG, Gauthier ME, Mould EVA, Gayevskiy V, Gifford AJ, Grebert-Wade D, Strong PA, Manouvrier E, Warby M, Thomas DM, Kirk J, Tucker K, O'Brien T, Alvaro F, McCowage GB, Dalla-Pozza L, Gottardo NG, Tapp H, Wood P, Khaw SL, Hansford JR, Moore AS, Norris MD, Trahair TN, Lock RB, Tyrrell V, Haber M, Marshall GM, Ziegler DS, Ekert PG, Cowley MJ. Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer. Nat Med. 2020 11; 26(11):1742-1753.

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Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Ad?s LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. JAMA. 2020 06 23; 323(24):2503-2511.

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Verboon JM, Mahmut D, Kim AR, Nakamura M, Abdulhay NJ, Nandakumar SK, Gupta N, Akie TE, Geddis AE, Manes B, Kapp ME, Hofmann I, Gabriel SB, Klein DE, Williams DA, Frangoul HA, Parkhurst SM, Crane GM, Cantor AB, Sankaran VG. Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction. J Clin Immunol. 2020 05; 40(4):554-566.

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Fontana P, Ibberson M, Stevenson B, Wigger L, Daali Y, Niknejad A, Mach F, Docquier M, Xenarios I, Cuisset T, Alessi MC, Reny JL. Contribution of exome sequencing to the identification of genes involved in the response to clopidogrel in cardiovascular patients. J Thromb Haemost. 2020 06; 18(6):1425-1434.

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Demetriou C, Chanudet E, Joseph A, Topf M, Thomas AC, Bitner-Glindzicz M, Regan L, Stanier P, Moore GE. Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. Hum Mol Genet. 2019 10 15; 28(20):3466-3474.

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