Journal of biomedical informatics

other 2026

A heterogeneous graph neural network for candidate gene prediction in endometriosis

doi:10.1016/j.jbi.2026.105028 ·PMID:41881288

OBJECTIVE: Precision medicine applications depend on elucidating the underlying molecular mechanisms of disease. However, many disorders, such as endometriosis, remain poorly characterised genetically due to data scarcity, positive-unlabell…

2023

Causal feature selection using a knowledge graph combining structured knowledge from the biomedical literature and ontologies: A use case studying depression as a risk factor for Alzheimer's disease.

doi:10.1016/j.jbi.2023.104368 ·PMID:37086959

BackgroundCausal feature selection is essential for estimating effects from observational data. Identifying confounders is a crucial step in this process. Traditionally, researchers employ content-matter expertise and literature review to i…

2015

Standardizing data exchange for clinical research protocols and case report forms: An assessment of the suitability of the Clinical Data Interchange Standards Consortium (CDISC) Operational Data Model (ODM).

doi:10.1016/j.jbi.2015.06.023 ·PMID:26188274

Efficient communication of a clinical study protocol and case report forms during all stages of a human clinical study is important for many stakeholders. An electronic and structured study representation format that can be used throughout …

2010

Independent component analysis: mining microarray data for fundamental human gene expression modules.

doi:10.1016/j.jbi.2010.07.001 ·PMID:20619355

As public microarray repositories rapidly accumulate gene expression data, these resources contain increasingly valuable information about cellular processes in human biology. This presents a unique opportunity for intelligent data mining m…