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Genetic Testing

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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
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...

Preliminary Screening for Hereditary Breast and Ovarian Cancer Using an AI Chatbot as a Genetic Counselor: Clinical Study.

Journal of medical Internet research
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
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...

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

Genes
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
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...

Could metabolic imaging and artificial intelligence provide a novel path to non-invasive aneuploidy assessments? A certain clinical need.

Reproduction, fertility, and development
Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate rep...

Multimodal multiview bilinear graph convolutional network for mild cognitive impairment diagnosis.

Biomedical physics & engineering express
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...

Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases.

BMC medical informatics and decision making
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 ...

[Prophylactic surgery and genetic counselling: What impact of the artificial intelligence?].

Bulletin du cancer
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...