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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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The Role of Race in the Stereotyping of a Speaker’s Accent as Native or Non-native

Bhuvanagiri et al. | Jan 07, 2019

The Role of Race in the Stereotyping of a Speaker’s Accent as Native or Non-native

In the modern world, communication and mobility are no longer obstacles. A natural consequence is that people from all over the world are mixing like never before and national identity can no longer be determined simply by a person's appearance or manner of speech. In this article, the authors study how a person's accent interferes with the perception of a their national identity and proposes ways to eliminate such biases.

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Are Age and Sex Related to Emotion Recognition Ability in Children and Teenagers?

Gallego-García et al. | Feb 23, 2018

Are Age and Sex Related to Emotion Recognition Ability in Children and Teenagers?

Humans have a natural ability to recognize emotional cues from the facial expressions of others, as a crucial evolutionary trait to navigate social interactions. This ability likely develops through normal development and social experience, but it is unclear how much influence age and sex have in emotional facial recognition (EFR). In this study, the authors investigate EFR in children and teenagers, and look at whether accurate emotional recognition does occur more in males or females.

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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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Can Children Acquire Their Parents’ History of Fracture?

Boulis et al. | Sep 24, 2018

Can Children Acquire Their Parents’ History of Fracture?

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.

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Impact of study partner status and group membership on commitment device effectiveness among college students

Gupta et al. | Jun 03, 2022

Impact of study partner status and group membership on commitment device effectiveness among college students

Here seeking to identify a possible solution to procrastination among college students, the authors used an online experiment that involved the random assignment of study partners that they shared their study time goal with. These partners were classified by status and group membership. The authors found that status and group membership did not significantly affect the likelihood of college students achieving their committed goals, and also suggest the potential of soft commitment devices that take advantage of social relationships to reduce procrastination.

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