Understanding coding mutations is important for many applications in biology and medicine but the vast mutation space makes comprehensive experimental characterisation impossible. Current predictors are often computationally intensive and difficult t...
The detection of tumour gene mutations by DNA or RNA sequencing is crucial for the prescription of effective targeted therapies. Recent developments showed promising results for tumoral mutational status prediction using new deep learning based metho...
Gene mutation detection is usually carried out by molecular biological methods, which is expensive and has a long-time cycle. In contrast, pathological images are ubiquitous. If clinically significant gene mutations can be predicted only through path...
Extraction of associations of singular nucleotide polymorphism (SNP) and phenotypes from biomedical literature is a vital task in BioNLP. Recently, some methods have been developed to extract mutation-diseases affiliations. However, no accessible met...
Mutation research. Reviews in mutation research
Mar 23, 2023
Genetic variations are one of the major causes of phenotypic variations between human individuals. Although beneficial as being the substrate of evolution, germline mutations may cause diseases, including Mendelian diseases and complex diseases such ...
Journal of medical imaging and radiation oncology
Mar 15, 2023
Molecular biomarkers are becoming increasingly important in the classification of intracranial gliomas. While tissue sampling remains the gold standard, there is growing interest in the use of deep learning (DL) techniques to predict these markers. T...
Journal of magnetic resonance imaging : JMRI
Mar 10, 2023
BACKGROUND: Studies have shown that magnetic resonance imaging (MRI)-based deep learning radiomics (DLR) has the potential to assess glioma grade; however, its role in predicting telomerase reverse transcriptase (TERT) promoter mutation status in pat...
objectives: Telomerase reverse transcriptase () promoter mutation, found in a subset of patients with thyroid cancer, is strongly associated with aggressive biologic behavior. Predicting promoter mutation is thus necessary for the prognostic strati...
OBJECTIVE: To demonstrate early aging in patients with lamin A/C (LMNA) gene mutations after hypothesizing that they have a biological age older than chronological age, as such a finding impacts care.
Clinical chemistry and laboratory medicine
Feb 2, 2023
OBJECTIVES: VEXAS syndrome is a newly described autoinflammatory disease associated with somatic mutations and vacuolization of myeloid precursors. This disease possesses an increasingly broad spectrum, leading to an increase in the number of suspec...