Latest AI and machine learning research in genetics for healthcare professionals.
BACKGROUND: Genetic variants play a pivotal role in the initiation and progression of many diseases, including cancer. Detecting these variants is the first step in understanding their contribution to disease mechanisms. RNA sequencing (RNA-Seq) has become a crucial assay in cancer research, offering insights beyond those provided by DNA sequencing. This study introduces VarRNA, a novel method tha...
BACKGROUND: Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specifi...
Celebrated for boosting agricultural productivity and enhancing food security worldwide, the green revolution constituted some of the most significant...
The association of a given human phenotype with a genetic variant remains a critical challenge in biomedical research. We present PhenoLinker, a novel...
OBJECTIVE: This study compared the brain function changes in chronic insomnia disorder (CID) before and after treatment by suanzaoren decoction (SZRD)...
Understanding how protein mutations affect protein-nucleic acid binding is critical for unraveling disease mechanisms and advancing therapies. Current...
PURPOSE: Recent advances in machine learning have led to the development of classifiers that predict molecular subtypes of acute lymphoblastic leukemi...
The function of PANoptosis in breast cancer (BC) remains indistinct. We constructed a nomogram model to predict the prognosis of BC to identify high-...
BACKGROUND: Candida endophthalmitis (CE) and chorioretinitis are uncommon but potentially devastating complications of candidemia, associated with sig...
Pharmacogenomics (PGx) has the potential to revolutionize hypertension management by tailoring antihypertensive therapy based on genetic profiles. Des...
Understanding and reasoning about objects' physical properties in the natural world is a fundamental challenge in artificial intelligence. While some ...
U1 small nuclear RNA (snRNA) mutations are recurrent non-coding alterations found in various malignancies, yet their identification has proven challen...
BACKGROUND: Single-cell RNA sequencing (scRNA-Seq) technology reveals biological processes and molecular-level genomic information among individual ce...
Peritoneal metastasis represents the most aggressive form of gastric cancer metastasis and serves as a primary contributor to poor prognosis. Conventi...
Checkpoint inhibitors (ICIs) are key therapies for NSCLC, but current selection criteria, such as excluding mutation carriers and assessing PD-L1, la...
As a major worldwide health concern, influenza still requires precise modeling of flu dynamics and efficient treatment approaches. Deep learning archi...
Phage therapy is emerging as a promising strategy against the growing threat of antimicrobial resistance, yet phage and bacteria are incredibly divers...
CRISPR-Cas9 is a groundbreaking gene editing technology, but variations in targeted editing efficiency arise due to significant discrepancies in sgRNA...
The pathogenesis of diabetic cardiomyopathy (DCM) remains incompletely understood. The present study employed weighted gene co‑expression network anal...
Rickettsia is a genus of bacteria that are obligate intracellular parasites and are responsible for the febrile diseases known collectively as Rickett...