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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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Reinforcement learning in 2-D space with varying gravitational fields

Rousseau et al. | Jun 07, 2025

Reinforcement learning in 2-D space with varying gravitational fields
Image credit: NASA

In this study the authors looked at the ability to navigate planes in space between randomly placed planets. They used machine and reinforcement learning to run simulations and found that they were able to identify optimal paths for travel. In the future these techniques may allow for safer travel in unknown spaces.

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Determining viability of image processing models for forensic analysis of hair for related individuals

Wang et al. | Feb 04, 2025

Determining viability of image processing models for forensic analysis of hair for related individuals
Image credit: Taylor Smith

Here, the authors used machine learning to analyze microscopic images of hair, quantifying various features to distinguish individuals, even within families where traditional DNA analysis is limited. The Discriminant Analysis (DA) model achieved the highest accuracy (88.89%) in identifying individuals, demonstrating its potential to improve the reliability of hair evidence in forensic investigations.

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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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An improved video fingerprinting attack on users of the Tor network

Srikanth et al. | Mar 31, 2022

An improved video fingerprinting attack on users of the Tor network

The Tor network allows individuals to secure their online identities by encrypting their traffic, however it is vulnerable to fingerprinting attacks that threaten users' online privacy. In this paper, the authors develop a new video fingerprinting model to explore how well video streaming can be fingerprinted in Tor. They found that their model could distinguish which one of 50 videos a user was hypothetically watching on the Tor network with 85% accuracy, demonstrating that video fingerprinting is a serious threat to the privacy of Tor users.

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