"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.
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.
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|Year||Major Topic||Minor Topic||Total|
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Below are the most recent publications written about "Exome" by people in Profiles.
Novel genotyping algorithms for rare variants significantly improve the accuracy of Applied Biosystems? Axiom? array genotyping calls: Retrospective evaluation of UK Biobank array data. PLoS One. 2022; 17(11):e0277680.
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. J Allergy Clin Immunol. 2022 10; 150(4):947-954.
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma. Hematol Oncol. 2022 Aug; 40(3):475-478.
cfTrack: A Method of Exome-Wide Mutation Analysis of Cell-free DNA to Simultaneously Monitor the Full Spectrum of Cancer Treatment Outcomes Including MRD, Recurrence, and Evolution. Clin Cancer Res. 2022 05 02; 28(9):1841-1853.
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. Eur J Paediatr Neurol. 2021 Nov; 35:27-34.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 08 18; 19(1):199.
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. Hum Mol Genet. 2021 02 25; 29(24):3892-3899.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. PLoS One. 2020; 15(6):e0234246.
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med. 2020 07; 22(7):1269-1275.