The advent of long-read sequencing offers a new assessment method of detecting genomic structural variation (SV) in numerous rare genetic diseases. For autism spectrum disorders (ASD) cases where pathogenic variants fail to be found in the protein-coding genic regions along chromosomes, we proposed a scalable workflow to characterize the risk factor of SVs impacting non-coding elements of the genome. We applied whole-genome sequencing on an Emirati family having three children with ASD using long and short-read sequencing technology. A series of analytical pipelines were established to identify a set of SVs with high sensitivity and specificity. At 15-fold coverage, we observed that long-read sequencing technology (987 variants) detected a significantly higher number of SVs when compared to variants detected using short-read technology (509 variants) (p-value < 1.1020 × 10−57). Further comparison showed 97.9% of long-read sequencing variants were spanning within the 1–100 kb size range (p-value < 9.080 × 10−67) and impacting over 5000 genes. Moreover, long-read variants detected 604 non-coding RNAs (p-value < 9.02 × 10−9), comprising 58% microRNA, 31.9% lncRNA, and 9.1% snoRNA. Even at low coverage, long-read sequencing has shown to be a reliable technology in detecting SVs impacting complex elements of the genome.
Background Embedding into undergraduate medical programs experiential research curricula, based on holistic theories of education which emphasize participation in the social world, remains uncommon. The purpose of this study was to investigate the journey of undergraduate medical students in relation to an innovative compulsory curriculum-based research module, which has a prominent experiential learning component. Methods A convergent mixed methods study design was adapted to develop a systemic understanding of the experience of the undergraduate medical students throughout the respective research module. As such, the students’ perception of the experience was qualitatively explored using thematic analysis (n = 15). In parallel, the students’ performance data were quantitatively analyzed using multi-repeated ANOVA (n = 158). The findings from both types of analyses (i.e., qualitative and quantitative study components) were then mapped onto each using joint display analysis. Findings The exploration generated four themes that correspond to sequential steps that the students go through to effectively integrate the scientific research method. These themes include: 1- Attend-Acquire, 2- Accumulate-Assimilate, 3- Apply-Appreciate, and 4-Articulate-Affect. Quantitatively, two distinct clusters of mean Grade Point Average were revealed (p<0.01). Joint display analysis enabled integrating the qualitative and quantitative findings, generating the 8A-Model. Conclusion The evidence-driven 8A-Model, generated by this study, highlights that medical students’ understanding of the true value of research seems to increase as they progress in the module. They begin expressing appreciation of the significance of the experience when they start implementing what they are learning as part of their own research studies. It is recommended for such a research module, with a firm experiential learning component, to be integral to undergraduate medical programs. This is expected to improve the future physicians’ research competences, and in turn add value in terms of quality of care and patient outcomes.
Embedding an experiential research curriculum into medical programs is still not widely adopted. This study investigated, using convergent mixed methods design, the journey of medical students in relation to a research module. The students perception of the experience was qualitatively explored using thematic analysis. The students performance data were quantitatively analyzed using multi-repeated ANOVA. The exploration generated four themes: 1- Attend-Acquire, 2- Accumulate-Assimilate, 3- Apply-Appreciate, and 4-Articulate-Affect. Quantitatively, two distinct clusters of mean Grade Point Average were revealed (p<0.01). Joint display analysis enabled integrating the qualitative and quantitative findings, generating the 8A-Model. The students start appreciating the experience upon conducting their research.
Background: Participating in volunteering activities during students’ higher education experience is becoming more commonplace. Studies have noted that volunteering has a positive impact on the academic performance of undergraduate medical students. However, the majority of these studies rely on self-reported data like surveys, interviews, and journals. In this study, we leverage actual institutional data to examining the relationship between volunteering and academic performance among medical students in the pre-clinical phases of the Bachelor of Medicine and Bachelor of Surgery (MBBS) program. The current study also explores the factors that might influence the studied relationship. Methods: A retrospective-longitudinal analysis was conducted in the College of Medicine at the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU) in Dubai, United Arab Emirates. Three years of volunteering records for three cohorts of undergraduate medical students enrolled in the MBBS program between 2016 – 2018 were reviewed and analyzed to complete this study. In addition, the correlation between the Annual Grade Point Average (AGPA) and volunteering was studied, and the regression coefficients for the two variables were observed across the three cohorts in each study year. Results: Analysis of 153 undergraduate medical students' volunteering records revealed a significant positive relationship between the AGPA and the number of volunteering in year two. The correlation was insignificant in year one, year three, and across the three cohorts. Conclusions: The association between academic performance and volunteering among undergraduate medical students appeared to be positive. However, this relationship differs across the pre-clinical study years in medical school and is likely influenced by factors that impact students’ motivation towards volunteering. Therefore, having the volunteerism program embedded in curriculum planning and testing students’ personality traits related to volunteering motivation, are aspects to be explored to enhance medical students’ learning and professional development through volunteerism.
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