Latest AI and machine learning research in genetics for healthcare professionals.
The assessment of DNA sequence variants for biological function and their classification into risk categories is time-consuming. This has widened the gap between the rapid generation of genomic data and the issuing of clinical reports. The human input for variant curation requires the additional use of artificial intelligence (AI) to address efficiency and accuracy. A commercial AI tool called Fra...
BACKGROUND: Syndrome differentiation in Traditional Chinese Medicine (TCM) is pivotal to clinical practice and dictates the efficacy of medicinal treatments. However, precision diagnostic models for TCM syndromes, constructed from biomarkers such as metabolites and proteins, have failed to achieve high precision. Recent studies have highlighted a strong link between TCM and epigenetics, an area th...
BACKGROUND: Fusion-positive rhabdomyosarcoma (FP-RMS) is driven by the oncogenic transcription factor PAX3-FOXO1 and is associated with poor clinical ...
The dicentric chromosome assay (DCA) serves as the gold standard for quantifying ionising radiation exposure in individuals. However, the conventional...
This review systematically analyzes the relationship between the immune microenvironment characteristics of microsatellite instability-high (MSI-H) or...
BACKGROUND: The coronavirus disease 2019 (COVID-19) ranges from asymptomatic to very severe infection and death, largely depending on host factors, in...
BACKGROUND: Intracranial aneurysm (IA) is a common neurovascular disorder; rupture causes aneurysmal subarachnoid hemorrhage with high mortality. Desp...
High-throughput sequencing technologies have enabled the generation of high-quality reference genomes for numerous rice cultivars. However, inferring ...
The RET V804M gatekeeper mutation is a clinically significant resistance mechanism that reduces the efficacy of several kinase inhibitors. To support ...
BACKGROUND: Self-harm is a critical public health concern; nevertheless, the complex interplay between genetic predispositions and environmental facto...
BACKGROUND: Improved risk prediction of cancer-associated venous thromboembolism (VTE) remains an unmet clinical need. We aimed to apply machine learn...
Heart failure (HF) following myocardial infarction (MI) remains a major threat to health worldwide. While transcriptomics has revealed numerous genes ...
Mice are widely used as biomedical research models, yet results from mouse gene studies often differ from equivalent studies in humans despite similar...
Early identification of emerging dominant variants of pathogens such as SARS-CoV-2 is important for effective public health responses, yet existing ap...
Compact RNA-guided nucleases such as IscB represent an attractive foundation for next-generation genome editors, yet their application in mammalian ce...
This paper presents a fractional-order modelling framework for population-resource dynamics using the ψ-Hilfer derivative with neural network-based va...
Severe asthma remains a challenging, heterogeneous condition, despite significant advances in therapeutic strategies. A subset of patients continues t...
In response to the limited cross-domain innovation in the digitalization of traditional oriental folk art, this study takes the New Year pictures of C...
BACKGROUND: Gestational diabetes mellitus (GDM) affects 15.6% of pregnancies globally, with Vietnam exhibiting one of the highest prevalences at 21%. ...
Accurately predicting the fitness effects of high-order mutations is a grand challenge in understanding and engineering proteins. Existing models, inc...