AIMC Topic: Genetic Testing
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Chatbot for the Return of Positive Genetic Screening Results for Hereditary Cancer Syndromes: Prompt Engineering Project.
JMIR cancer
Jun 10, 2025
The increasing demand for population-wide genomic screening and the limited availability of genetic counseling resources have created a pressing need for innovative service delivery models. Chatbots powered by large language models (LLMs) have shown ...
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.
Human genetics
Apr 23, 2025
Variants of Uncertain Significance (VUS) in genetic testing for hereditary diseases burden patients and clinicians, yet clinical data that could reduce VUS are underutilized due to a lack of scalable strategies. We assessed whether a machine learning...
Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases.
BMC medical informatics and decision making
Feb 5, 2025
BACKGROUND: Virtual Gene Panels (VGP) comprising disease-associated causal genes are utilized in the diagnosis of rare genetic diseases to evaluate candidate genes identified by whole-genome and whole-exome sequencing. VGPs generated by the PanelApp ...
Multimodal multiview bilinear graph convolutional network for mild cognitive impairment diagnosis.
Biomedical physics & engineering express
Jan 22, 2025
Mild cognitive impairment (MCI) is a significant predictor of the early progression of Alzheimer's disease (AD) and can serve as an important indicator of disease progression. However, many existing methods focus mainly on the image when processing b...
AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.
Genes
Dec 27, 2024
BACKGROUND/OBJECTIVES: Artificial intelligence and large language models like ChatGPT and Google's Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini's potential utility in ...
A histopathology-based artificial intelligence system assisting the screening of genetic alteration in intrahepatic cholangiocarcinoma.
British journal of cancer
Dec 2, 2024
BACKGROUND: Targeted therapy for intrahepatic cholangiocarcinoma (ICC) shows superior survival outcomes but patients with certain targetable alterations are no more than 20%. Genetic alteration screening for all ICC patients is of high cost and not r...
Preliminary Screening for Hereditary Breast and Ovarian Cancer Using an AI Chatbot as a Genetic Counselor: Clinical Study.
Journal of medical Internet research
Nov 27, 2024
BACKGROUND: Hereditary breast and ovarian cancer (HBOC) is a major type of hereditary cancer. Establishing effective screening to identify high-risk individuals for HBOC remains a challenge. We developed a prototype of a chatbot system that uses arti...
Interpretation knowledge extraction for genetic testing via question-answer model.
BMC genomics
Nov 9, 2024
BACKGROUND: Sequencing-based genetic testing is widely used in biomedical research, including pathogenic microorganism detection with metagenomic next-generation sequencing (mNGS). The application of sequencing results to clinical diagnosis and treat...
External validation of a fully automated evaluation tool: a retrospective analysis of 68,471 scored embryos.
Fertility and sterility
Oct 15, 2024
OBJECTIVE: To externally validate a fully automated embryo classification system for in vitro fertilization (IVF) treatments.
Personalized melanoma grading system: a presentation of a patient with four melanomas detected over two decades with evolving whole-body imaging and artificial intelligence systems.
Dermatology online journal
Oct 15, 2024
Melanoma is a life-threatening tumor that significantly impacts individuals' health and society worldwide. Therefore, its diagnostic tools must be revolutionized, representing the most remarkable human efforts toward successful management. This retro...
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