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Using explainable artificial intelligence to identify patient-specific breast cancer subtypes

Suresh et al. | Jan 12, 2024

Using explainable artificial intelligence to identify patient-specific breast cancer subtypes

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.

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A comparative analysis of machine learning approaches for prediction of breast cancer

Nag et al. | May 11, 2021

A comparative analysis of machine learning approaches for prediction of breast cancer

Machine learning and deep learning techniques can be used to predict the early onset of breast cancer. The main objective of this analysis was to determine whether machine learning algorithms can be used to predict the onset of breast cancer with more than 90% accuracy. Based on research with supervised machine learning algorithms, Gaussian Naïve Bayes, K Nearest Algorithm, Random Forest, and Logistic Regression were considered because they offer a wide variety of classification methods and also provide high accuracy and performance. We hypothesized that all these algorithms would provide accurate results, and Random Forest and Logistic Regression would provide better accuracy and performance than Naïve Bayes and K Nearest Neighbor.

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Recognition of animal body parts via supervised learning

Kreiman et al. | Oct 28, 2023

Recognition of animal body parts via supervised learning
Image credit: Kreiman et al. 2023

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.

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Refinement of Single Nucleotide Polymorphisms of Atopic Dermatitis related Filaggrin through R packages

Naravane et al. | Oct 12, 2022

Refinement of Single Nucleotide Polymorphisms of Atopic Dermatitis related Filaggrin through R packages

In the United States, there are currently 17.8 million affected by atopic dermatitis (AD), commonly known as eczema. It is characterized by itching and skin inflammation. AD patients are at higher risk for infections, depression, cancer, and suicide. Genetics, environment, and stress are some of the causes of the disease. With the rise of personalized medicine and the acceptance of gene-editing technologies, AD-related variations need to be identified for treatment. Genome-wide association studies (GWAS) have associated the Filaggrin (FLG) gene with AD but have not identified specific problematic single nucleotide polymorphisms (SNPs). This research aimed to refine known SNPs of FLG for gene editing technologies to establish a causal link between specific SNPs and the diseases and to target the polymorphisms. The research utilized R and its Bioconductor packages to refine data from the National Center for Biotechnology Information's (NCBI's) Variation Viewer. The algorithm filtered the dataset by coding regions and conserved domains. The algorithm also removed synonymous variations and treated non-synonymous, frameshift, and nonsense separately. The non-synonymous variations were refined and ordered by the BLOSUM62 substitution matrix. Overall, the analysis removed 96.65% of data, which was redundant or not the focus of the research and ordered the remaining relevant data by impact. The code for the project can also be repurposed as a tool for other diseases. The research can help solve GWAS's imprecise identification challenge. This research is the first step in providing the refined databases required for gene-editing treatment.

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Machine learning for retinopathy prediction: Unveiling the importance of age and HbA1c with XGBoost

Ramachandran et al. | Sep 05, 2024

Machine learning for retinopathy prediction: Unveiling the importance of age and HbA1c with XGBoost

The purpose of our study was to examine the correlation of glycosylated hemoglobin (HbA1c), blood pressure (BP) readings, and lipid levels with retinopathy. Our main hypothesis was that poor glycemic control, as evident by high HbA1c levels, high blood pressure, and abnormal lipid levels, causes an increased risk of retinopathy. We identified the top two features that were most important to the model as age and HbA1c. This indicates that older patients with poor glycemic control are more likely to show presence of retinopathy.

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