Latest AI and machine learning research in genetics for healthcare professionals.
Inherited Retinal Diseases (IRDs) are the leading cause of blindness in young people in the UK. Desp...
Rare diseases, including many rare genetic epilepsies and neurodevelopmental disorders, present sign...
This study demonstrates the integration of Large Language Model (LLM)-derived clinical text embeddin...
Frontotemporal lobar degeneration-TDP Type C (TDP-C) is a unique neurodegenerative disease that star...
Recurrent/metastatic head and neck squamous cell carcinoma (R/M HNSCC) is an aggressive cancer with ...
Genome-wide association studies (GWASs) have identified over 2,400 genetic variants associated to br...
Chronic Myeloid Leukemia (CML) progresses through chronic, accelerated, and blast crisis phases, mak...
Numerical variations and transitional anatomy in the human vertebral column, observed in up to 36% o...
Epidermal Growth Factor Receptor (EGFR) mutations are critical biomarkers for targeted therapies in ...
Initially introduced in 1909 by William Bateson, classic epistasis (genetic variant interaction) ref...
Variants of uncertain significance (VUS) pose a significant challenge for those undergoing genetic t...
Hereditary thoracic aortic diseases (HTAD) are often associated with multifaceted phenotypic manifes...
Deep Learning (DL) has emerged as a powerful tool to predict genetic biomarkers directly from digiti...
Introduction: The increasing complexity of clinical cancer research necessitates the development of ...
Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide inter...
Stroke is one of the leading causes of mortality and long-term disability in adults over 18 years of...
Cognitive behavioral therapy (CBT) is a first-line treatment for obsessive-compulsive disorder (OCD)...
Multiple myeloma (MM) is characterized by abnormal plasma cell proliferation in the bone marrow, lea...
Soft tissue sarcomas (STS) histopathological classification system has several conceptual caveats, i...
Biological aging clocks across organs and omics data, including clinical phenotypes, neuroimaging, p...
The increasing availability of whole-genome sequencing (WGS) has begun to elucidate the contribution...