National Cancer Institute (source definition)
Whole Exome Sequencing
A procedure that can determine the DNA sequence for all of the exons in an individual.
Review and references
Automated source check (NCI definition)
2026-10-18
2026-10-31
professional use
References
- NCI Thesaurus 26.09d — Whole Exome Sequencing (C101295)
- Source: National Cancer Institute, NCI Thesaurus 26.09d, C101295. NCI definition, reproduced without modification under CC BY 4.0.
- Implications of Genes Involved in Inflammatory Regulation, Cytoskeletal Organization, and Extracellular Matrix Integrity for Susceptibility to High-Altitude Pulmonary Edema: A Pilot Whole-Exome Sequencing Study. — Respir Physiol Neurobiol, 2026-10-09 (PMID 42854935; literature)
- Whole-exome sequencing identifies a missense variant in the cytoskeletal gene SVIL implicating actin remodeling in COVID-19 severity in a Pakistani cohort. — PLoS One, 2026-10-12 (PMID 42862844; literature)
- Phenotypic Complexity and Diagnostic Utility of Exome Sequencing in ASD: Real-World Insights from Colombia. — Int J Mol Sci, 2026-10-07 (PMID 42884145; literature)
- Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations. — J Clin Lab Anal, 2026-10-16 (PMID 42888509; literature)
- Clinical whole exome sequencing in childhood epilepsy: a tertiary center retrospective study from Saudi Arabia. — J Appl Genet, 2026-10-20 (PMID 42897344; literature)
- Astrocyte-enriched and cilia-related genetic signatures in dementia: A whole-exome sequencing study. — Gen Psychiatr, 2026-10-21 (PMID 42910247; literature)
- Corrigendum to "Whole-exome sequencing provides assessment of homologous recombination deficiency for identification of PARPi-responsive ovarian tumors" [Gynecol. Oncol. 197 (2025) 139-145]. — Gynecol Oncol, 2026-10-21 (PMID 42906228; literature)
- Reduced Diagnostic Yield of Whole Exome Sequencing in Patients With Chromosomal Microarray Detected Copy Number Variants of Uncertain Significance. — Twin Res Hum Genet, 2026-10-30 (PMID 42958765; literature)
- Clinical characteristics and maternal whole-exome sequencing findings in patients with recurrent oocyte, zygote, and early embryo maturation arrest: a single-center experience. — Gene, 2026-10-29 (PMID 42957105; literature)
What it is
A procedure that can determine the DNA sequence for all of the exons in an individual.
Source: National Cancer Institute, NCI Thesaurus 26.09d, C101295. NCI definition, reproduced without modification under CC BY 4.0.
Source identity and definition checked automatically on 2026-10-18. No individual clinical interpretation or human reviewer is asserted.
Compliance note
Reference intervals and interpretation depend on the laboratory, specimen, method and clinical context. This source definition is educational information; it does not establish a diagnosis, product approval or suitability for an individual.
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