Here, the authors investigated if dietary Omega-3 fatty acids could reduce the potential for cerebral cavernous malformations, which are brain lesions that occur due to a genetic mutation where high membrane permeability occurs between endothelial cell junctions. In a bovine-based study where some cows were fed an Omega-3 diet, the authors found the membranes of bovine blood cells increased in thickness with Omega-3 supplementation. As a result, they suggest that dietary Omega-3 could be considered as a possible preventative measure for cerebral cavernous malformations.
In this study, the authors developed a model named DNA Sequence Embedding Network (DNA-SEnet) to classify DNA-asthma associations using their genomic patterns.
In this study, the authors develop an architecture to implement in a cloud-based database used by law firms to ensure confidentiality, availability, and integrity of attorney documents while maintaining greater efficiency than traditional encryption algorithms. They assessed whether the architecture satisfies necessary criteria and tested the overall file sizes the architecture could process. The authors found that their system was able to handle larger file sizes and fit engineering criteria. This study presents a valuable new tool that can be used to ensure law firms have adequate security as they shift to using cloud-based storage systems for their files.
While the genetic basis of hip fracture risk has been studied extensively in adults, it is not known whether parental history of bone fractures affects their children's fracture risk. In this article, the authors investigated whether a parental history of bone fractures influences the rate of fractures in their children. They found that adolescent children whose parents had a more extensive history of fractures were more likely to have a history of fractures themselves, suggesting that parents' medical histories may be an important consideration in future pediatric health research.
Engineered bacteria that degrade oil are currently being considered as a safe option for the treatment of oil spills. For this approach to be successful, the bacteria must effectively express oil-degrading genes they uptake as part of an external genoming vehicle called a "plasmid". Using a computational approach, the authors investigate plasmid-bacterium compatibility to find pairs that ensure high levels of gene expression.
Breast cancer is the most common cancer in women, with approximately 300,000 diagnosed with breast cancer in 2023. It ranks second in cancer-related deaths for women, after lung cancer with nearly 50,000 deaths. Scientists have identified important genetic mutations in genes like BRCA1 and BRCA2 that lead to the development of breast cancer, but previous studies were limited as they focused on specific populations. To overcome limitations, diverse populations and powerful statistical methods like genome-wide association studies and whole-genome sequencing are needed. Explainable artificial intelligence (XAI) can be used in oncology and breast cancer research to overcome these limitations of specificity as it can analyze datasets of diagnosed patients by providing interpretable explanations for identified patterns and predictions. This project aims to achieve technological and medicinal goals by using advanced algorithms to identify breast cancer subtypes for faster diagnoses. Multiple methods were utilized to develop an efficient algorithm. We hypothesized that an XAI approach would be best as it can assign scores to genes, specifically with a 90% success rate. To test that, we ran multiple trials utilizing XAI methods through the identification of class-specific and patient-specific key genes. We found that the study demonstrated a pipeline that combines multiple XAI techniques to identify potential biomarker genes for breast cancer with a 95% success rate.
Glioblastoma Multiforme (GBM) is the most malignant brain tumor with the highest fraction of genome alterations (FGA), manifesting poor disease-free status (DFS) and overall survival (OS). We explored The Cancer Genome Atlas (TCGA) and cBioportal public dataset- Firehose legacy GBM to study DNA repair genes Activating Signal Cointegrator 1 Complex Subunit 3 (ASCC3) and Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 3 (ALKBH3). To test our hypothesis that these genes have correlations with FGA and can better determine prognosis and survival, we sorted the dataset to arrive at 254 patients. Analyzing using RStudio, both ASCC3 and ALKBH3 demonstrated hypomethylation in 82.3% and 61.8% of patients, respectively. Interestingly, low mRNA expression was observed in both these genes. We further conducted correlation tests between both methylation and mRNA expression of these genes with FGA. ASCC3 was found to be negatively correlated, while ALKBH3 was found to be positively correlated, potentially indicating contrasting dysregulation of these two genes. Prognostic analysis showed the following: ASCC3 hypomethylation is significant with DFS and high ASCC3 mRNA expression to be significant with OS, demonstrating ASCC3’s potential as disease prediction marker.
The application of machine learning techniques has facilitated the automatic annotation of behavior in video sequences, offering a promising approach for ethological studies by reducing the manual effort required for annotating each video frame. Nevertheless, before solely relying on machine-generated annotations, it is essential to evaluate the accuracy of these annotations to ensure their reliability and applicability. While it is conventionally accepted that there cannot be a perfect annotation, the degree of error associated with machine-generated annotations should be commensurate with the error between different human annotators. We hypothesized that machine learning supervised with adequate human annotations would be able to accurately predict body parts from video sequences. Here, we conducted a comparative analysis of the quality of annotations generated by humans and machines for the body parts of sheep during treadmill walking. For human annotation, two annotators manually labeled six body parts of sheep in 300 frames. To generate machine annotations, we employed the state-of-the-art pose-estimating library, DeepLabCut, which was trained using the frames annotated by human annotators. As expected, the human annotations demonstrated high consistency between annotators. Notably, the machine learning algorithm also generated accurate predictions, with errors comparable to those between humans. We also observed that abnormal annotations with a high error could be revised by introducing Kalman Filtering, which interpolates the trajectory of body parts over the time series, enhancing robustness. Our results suggest that conventional transfer learning methods can generate behavior annotations as accurate as those made by humans, presenting great potential for further research.
Here, seeking to identify the risk of coronary artery disease (CAD), a major cause of cardiovascular disease, the authors used Mendelian randomization. With this method they identified several traits such as blood pressure readings, LDL cholesterol and BMI as significant risk factors. While other traits were not found to be significant risk factors.
