Browse Articles

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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Genetic underpinnings of the sex bias in autism spectrum disorder

Lee et al. | Mar 29, 2024

Genetic underpinnings of the sex bias in autism spectrum disorder
Image credit: Louis Reed

Here, seeking to identify a possible explanation for the more frequent diagnosis of autism spectrum disorder (ASD) in males than females, they sought to investigate a potential sex bias in the expression of ASD-associated genes. Based on their analysis, they identified 17 ASD-associated candidate genes that showed stronger collective sex-dependent expression.

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The presence of Wolbachia in Brood X cicadas

Hasan et al. | Oct 15, 2022

The presence of <em>Wolbachia</em> in Brood X cicadas

Here, seeking to understand a possible cause of the declining popluations of Brood X cicadas in Ohio and Indiana, the authors investigated the presence of Wolbachia, an inherited bacterial symbiont that lives in the reproductive cells of approximately 60% of insect species in these cicadas. Following their screening of one-hundred 17-year periodical cicadas, they only identified the presence of Wolbachia infection in less than 2%, suggesting that while Wolbachia can infect cicadas it appears uncommon in the Brood X cicadas they surveyed.

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Investigation of unknown causes of uveal melanoma uncovers seven recurrent genetic mutations

Nanda et al. | Aug 25, 2022

Investigation of unknown causes of uveal melanoma uncovers seven recurrent genetic mutations

Uveal melanoma (UM) is a rare subtype of melanoma but the most frequent primary cancer of the eye in adults. The goal of this study was to research the genetic causes of UM through a comprehensive frequency analysis of base-pair mismatches in patient genomes. Results showed a total of 130 genetic mutations, including seven recurrent mutations, with most mutations occurring in chromosomes 3 and X. Recurrent mutations varied from 8.7% to 17.39% occurrence in the UM patient sample, with all mutations identified as missense. These findings suggest that UM is a recessive heterogeneous disease with selective homozygous mutations. Notably, this study has potential wider significance because the seven genes targeted by recurrent mutations are also involved in other cancers.

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Effects of Temperature on Hand Sanitizer Efficiency

Molom-Ochir et al. | May 11, 2022

Effects of Temperature on Hand Sanitizer Efficiency

Here, recognizing the widespread use of hand sanitizers, the authors investigated their effectiveness in relation to storage temperature. They applied hand sanitizer before and after touching a cell phone and used LB-agar plates to monitor the growth of bacteria following this process. They found that 70% ethyl-alcohol-based sanitizers are least effective at temperatures above 107.27 °F and most effective at 96.17 °F.

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Does Gaming Improve Cognitive Skills?

Chakravarti et al. | Jan 26, 2015

Does Gaming Improve Cognitive Skills?

Playing video games may improve mental performance by encouraging practicing logical reasoning skills. Students who played video games in between two tests tended to perform better on the second test than those that did not play video games.

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A land use regression model to predict emissions from oil and gas production using machine learning

Cao et al. | Mar 24, 2023

A land use regression model to predict emissions from oil and gas production using machine learning

Emissions from oil and natural gas (O&G) wells such as nitrogen dioxide (NO2), volatile organic compounds (VOCs), and ozone (O3) can severely impact the health of communities located near wells. In this study, we used O&G activity and wind-carried emissions to quantify the extent to which O&G wells affect the air quality of nearby communities, revealing that NO2, NOx, and NO are correlated to O&G activity. We then developed a novel land use regression (LUR) model using machine learning based on O&G prevalence to predict emissions.

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Analyzing the relationships between years of experience and performance anxiety in teen volleyball players

Concha-Ortiz et al. | Aug 15, 2024

Analyzing the relationships between years of experience and performance anxiety in teen volleyball players
Image credit: The authors

Athletes with performance anxiety may struggle to play their best and enjoy the game. Various factors may impact how much anxiety an athlete feels, including how much experience they have in the sport. Concha-Ortiz and Navins survey teenage club volleyball players to look for relationships between years of experience and performance anxiety symptoms.

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