Though there have been many advances in providing access to linked and integrated biomedical data across repositories, developing methods which allow users to specify ambiguous and exploratory queries over disparate sources remains a challenge to extracting well-curated or diversely-supported biological information. In the following work, we discuss the concepts of data coverage and evidence in the context of integrated sources. We address diverse information retrieval via a simple framework for representing coverage and evidence that operates in parallel with an arbitrary schema, and a language upon which queries on the schema and framework may be executed. We show that this approach is capable of answering questions that require ranged levels of evidence or triangulation, and demonstrate that appropriately-formed queries can significantly improve the level of precision when retrieving well-supported biomedical data.
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http://dx.doi.org/10.1016/j.jbi.2010.07.005 | DOI Listing |
J Assist Reprod Genet
January 2025
Medical Genetics & Genomics Unit, AULSS8 Berica, Vicenza, Italy.
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.
View Article and Find Full Text PDFJ Imaging Inform Med
January 2025
Department of Radiology, University of Pennsylvania Perelman School of Medicine, 3400 Spruce St., Philadelphia, PA, 19104, USA.
Integration of artificial intelligence (AI) into radiology practice can create opportunities to improve diagnostic accuracy, workflow efficiency, and patient outcomes. Integration demands the ability to seamlessly incorporate AI-derived measurements into radiology reports. Common data elements (CDEs) define standardized, interoperable units of information.
View Article and Find Full Text PDFEur J Nucl Med Mol Imaging
January 2025
The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325000, China.
Purpose: The study explores the role of multimodal imaging techniques, such as [F]F-PSMA-1007 PET/CT and multiparametric MRI (mpMRI), in predicting the ISUP (International Society of Urological Pathology) grading of prostate cancer. The goal is to enhance diagnostic accuracy and improve clinical decision-making by integrating these advanced imaging modalities with clinical variables. In particular, the study investigates the application of few-shot learning to address the challenge of limited data in prostate cancer imaging, which is often a common issue in medical research.
View Article and Find Full Text PDFBrain Inform
January 2025
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.
Cognitive resilience (CR) describes the phenomenon of individuals evading cognitive decline despite prominent Alzheimer's disease neuropathology. Operationalization and measurement of this latent construct is non-trivial as it cannot be directly observed. The residual approach has been widely applied to estimate CR, where the degree of resilience is estimated through a linear model's residuals.
View Article and Find Full Text PDFNat Med
January 2025
Department of Computer Science and Applied Mathematics, Weizmann Institute of Science, Rehovot, Israel.
Sleep tests commonly diagnose sleep disorders, but the diverse sleep-related biomarkers recorded by such tests can also provide broader health insights. In this study, we leveraged the uniquely comprehensive data from the Human Phenotype Project cohort, which includes 448 sleep characteristics collected from 16,812 nights of home sleep apnea test monitoring in 6,366 adults (3,043 male and 3,323 female participants), to study associations between sleep traits and body characteristics across 16 body systems. In this analysis, which identified thousands of significant associations, visceral adipose tissue (VAT) was the body characteristic that was most strongly correlated with the peripheral apnea-hypopnea index, as adjusted by sex, age and body mass index (BMI).
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