Disease diagnosis is the process of identifying the nature and cause of a patient's condition by integrating clinical evaluation with laboratory, imaging, and increasingly molecular evidence. It establishes which disease is present, distinguishes it from alternatives, and provides the basis for prognosis and treatme…
Disease diagnosis is the process of identifying the nature and cause of a patient's condition by integrating clinical evaluation with laboratory, imaging, and increasingly molecular evidence. It establishes which disease is present, distinguishes it from alternatives, and provides the basis for prognosis and treatment selection. Accurate, timely diagnosis is central to effective care and, for many conditions, decisively influences outcome. In the genomic and proteomic era, diagnosis increasingly relies on molecular techniques that detect disease-specific signatures: proteomic and genomic assays applied to cancer and other disorders, microRNA and circular-RNA expression profiles proposed as biomarkers, and cytogenetic analysis that reveals chromosomal abnormalities underlying particular leukaemias. These approaches complement traditional clinical and pathological methods and enable earlier detection, more precise classification, and personalised treatment. Bioinformatic resources support diagnosis by linking molecular data to disease mechanisms, as in the analysis of biomarkers for metabolic and renal complications of diabetes. Key themes include the discovery and validation of biomarkers, the integration of multi-omic data with clinical findings, and the move toward diagnostics that not only name a disease but also guide targeted therapy. By combining established and emerging molecular tools, disease diagnosis aims to characterise conditions with greater accuracy and specificity, improving the precision of subsequent clinical decisions across a broad spectrum of infectious, genetic, and malignant disorders.
7 peer-reviewed articles, ranked by relevance. Each links to its DOI.
The 7 articles above have been cited 12 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
A sample of recent works citing this journal's research on Disease Diagnosis, linking to each citing work.