AIMC Topic: Genetic Testing

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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 ...

Recurrent pregnancy loss: risk factors and predictive modeling approaches.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
PURPOSE: This review aims to identify and analyze the risk factors associated with recurrent pregnancy loss (RPL) and to evaluate the effectiveness of various predictive models in estimating the risk of RPL. The review also explores recent advancemen...

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...

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...

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...

What could be the role of genetic tests and machine learning of AXIN2 variant dominance in non-syndromic hypodontia? A case-control study in orthodontically treated patients.

Progress in orthodontics
BACKGROUND: Hypodontia is the most prevalent dental anomaly in humans, and is primarily attributed to genetic factors. Although genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNP) associated with hypodontia, g...

Machine learning analysis of oxidative stress-related phenotypes for specific gene screening in ovarian cancer.

Environmental toxicology
BACKGROUND: Oxidative stress serves a crucial role in tumor development. However, the relationship between ovarian cancer and oxidative stress remains unknown. We aimed to create an oxidative stress-related prognostic signature to enhance the prognos...

Factors affecting biochemical pregnancy loss (BPL) in preimplantation genetic testing for aneuploidy (PGT-A) cycles: machine learning-assisted identification.

Reproductive biology and endocrinology : RB&E
PURPOSE: To determine the factors influencing the likelihood of biochemical pregnancy loss (BPL) after transfer of a euploid embryo from preimplantation genetic testing for aneuploidy (PGT-A) cycles.