The rapid advancement of genomic and precision medicine has expanded the role of genetics and genomics in the diagnosis, risk stratification, and management of cardiovascular diseases. With the decreasing cost and increasing accessibility of genetic ...
BACKGROUND: Variants of uncertain significance (VUS) represent a major diagnostic challenge in the interpretation of genetic testing results, particularly in the context of inborn errors of immunity such as severe combined immunodeficiency (SCID). Th...
The accurate diagnosis of pathogenic variants is essential for effective clinical decision making within precision medicine programs. Despite significant advances in both the quality and quantity of molecular patient data, diagnostic rates remain sub...
Cardiomyopathies pose a significant risk of morbidity and mortality worldwide, with dilated cardiomyopathy (DCM) recognized as the leading cause of pediatric heart transplantation. Understanding the unique presentation of DCM in the pediatric populat...
The trend of delayed childbearing has increased the average age of parents, with the impact of paternal age on embryo euploidy remaining controversial. Therefore, this study aimed to investigate the impact of paternal age on embryo euploidy using ret...
The introduction of Poly (ADP-ribose) Polymerase (PARP) inhibitors in both metastatic and early-stage breast cancer (BC) treatment has led to the emergence of Mainstreaming Cancer Genetics (MCG) as a new approach to genetic counselling, predictive of...
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 ...
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...
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 ...
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...
Join thousands of healthcare professionals staying informed about the latest AI breakthroughs in medicine. Get curated insights delivered to your inbox.