The convergence of artificial intelligence (AI) and biomedical data is transforming precision medicine by enabling the use of genetic risk factors (GRFs) for customized healthcare services based on individual needs. Although GRFs play an essential ro...
Computer methods and programs in biomedicine
Jun 1, 2025
BACKGROUND AND OBJECTIVE: Understanding gene-disease relationships is crucial for medical research, drug discovery, clinical diagnosis, and other fields. However, there is currently no high-quality, fine-grained corpus available for training Natural ...
IEEE journal of biomedical and health informatics
Jun 1, 2025
Disease is one of the primary factors affecting life activities, with complex etiologies often influenced by gene expression and mutation. Currently, wet lab experiments have analyzed the mechanisms of mutations, but these are usually limited by the ...
BACKGROUND: Exploring piRNA-disease associations can help discover candidate diagnostic or prognostic biomarkers and therapeutic targets. Several computational methods have been presented for identifying associations between piRNAs and diseases. Howe...
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects nearly 3% of children and has a strong genetic component. While hundreds of ASD risk genes have been identified through sequencing studies, the genetic heterogeneity of ASD ...
Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide intermediate phenotypes (i.e. endophenotypes) that bridge the genetics and clinical manifestations of human disease. However, the genetic architecture of t...
In the area of cancer predisposition, certain situations may lead to the discussion of prophylactic surgery. This is rarely strictly recommended and depends on the patient's choice. The advantages and disadvantages must be weighed up. The main advant...
Journal of the American Medical Informatics Association : JAMIA
Mar 1, 2025
BACKGROUND: Machine learning and deep learning are powerful tools for analyzing electronic health records (EHRs) in healthcare research. Although family health history has been recognized as a major predictor for a wide spectrum of diseases, research...
SUMMARY: Polygenic risk scores (PRSs) hold promise for early disease diagnosis and personalized treatment, but their overall discriminative power remains limited for many diseases in the general population. As a result, numerous novel PRS modeling te...
Biomedical and environmental sciences : BES
Jan 20, 2025
OBJECTIVE: To establish and validate a novel diabetic retinopathy (DR) risk-prediction model using a whole-exome sequencing (WES)-based machine learning (ML) method.
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