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An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance.
Hum Genet
January 2025
TCS Research, Tata Consultancy Services, Hyderabad, India.
Variants of uncertain significance (VUS) represent variants that lack sufficient evidence to be confidently associated with a disease, thus posing a challenge in the interpretation of genetic testing results. Here we report an improved method for predicting the VUS of Arylsulfatase A (ARSA) gene as part of the Critical Assessment of Genome Interpretation challenge (CAGI6). Our method uses a transfer learning approach that leverages a pre-trained protein language model to predict the impact of mutations on the activity of the ARSA enzyme, whose deficiency is known to cause a rare genetic disorder, metachromatic leukodystrophy.
View Article and Find Full Text PDFSingle-omics approaches often provide a limited view of complex biological systems, whereas multiomics integration offers a more comprehensive understanding by combining diverse data views. However, integrating heterogeneous data types and interpreting the intricate relationships between biological features-both within and across different data views-remains a bottleneck. To address these challenges, we introduce COSIME (Cooperative Multi-view Integration and Scalable Interpretable Model Explainer).
View Article and Find Full Text PDFThe Impact of Audience Response System in Changing Students' Attitudes Towards Lectures During Training Courses; A Before-After Study.
Health Sci Rep
January 2025
Center of Educational Research in Medical Sciences (CERMS), Department of Medical Education, school of medicine Iran University of Medical Sciences Tehran Iran.
Background And Aims: The primary teaching approach known as "traditional lecture" has drawbacks, including being dull and reducing student participation, which has made students feel negatively about it. It seems that by implementing certain changes, active learning techniques like the "Audience Response System" could alter students' perceptions of lectures. The purpose of this study is to find out how employing "ARS" throughout a course has affected nursing students' perceptions of traditional lectures.
View Article and Find Full Text PDFAntin-diabetic cognitive dysfunction effects and underpinning mechanisms of phytogenic bioactive peptides: a review.
Front Nutr
January 2025
College of Food Science and Technology, Yunan Agricultural University, Kunming, China.
Diabetic cognitive dysfunction is one of the important comorbidities and complications of diabetes, which is mainly manifested by loss of learning ability and memory, behavioural disorders, and may even develop into dementia. While traditional anti-diabetic medications are effective in improving cognition and memory, long-term use of these medications can be accompanied by undesirable side effects. Therefore, there is an urgent need to find safe and effective alternative therapies.
View Article and Find Full Text PDFImplementing Cancer Pain Management Training for Pharmacists Using the Kirkpatrick Evaluation Model.
J Pain Res
January 2025
Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, People's Republic of China.
Purpose: To develop a training program on cancer pain management for pharmacists and to evaluate the effectiveness of the training.
Methods: The program developed a well-structured curriculum and subsequent evaluation of training effectiveness, guided by the Kirkpatrick four-tier evaluation model, including reaction, learning, behavior, and results. The training approach incorporated mentoring, study groups, and problem-based learning to create an immersive and impactful learning experience.
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