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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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Physical Appearance and Its Effect on Trust

Ledesma et al. | Nov 09, 2020

Physical Appearance and Its Effect on Trust

Do different physical traits affect teenagers’ initial trust of an unknown person? Would they give greater trust to women and people of similar ethnicity? To test these hypotheses, the authors developed a survey to determine the sets of physical characteristics that affect a person's trustworthiness. They found that gender and expression were the main physical traits associated with how trustworthy an individual looks, while ethnicity was also important.

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Qualitative tracking of human and animation motions reveals differences in their walking gaits

Baily et al. | Oct 04, 2024

Qualitative tracking of human and animation motions reveals differences in their walking gaits

In their attempt to evoke a greater emotional connection with viewers, animators have strived to replicate human movements in their animations. However, animation movements still appear distinct from human movements. With a focus on walking, we hypothesized that animations, unaffected by real external forces (e.g. gravity), would move with a universally distinct, gliding gait that is discernible from humans.

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Predicting baseball pitcher efficacy using physical pitch characteristics

Oberoi et al. | Jan 11, 2024

Predicting baseball pitcher efficacy using physical pitch characteristics
Image credit: Antoine Schibler

Here, the authors sought to develop a new metric to evaluate the efficacy of baseball pitchers using machine learning models. They found that the frequency of balls, was the most predictive feature for their walks/hits allowed per inning (WHIP) metric. While their machine learning models did not identify a defining trait, such as high velocity, spin rate, or types of pitches, they found that consistently pitching within the strike zone resulted in significantly lower WHIPs.

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