Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting by Helena Malmgren, Helena Malmgren, Malin Kvarnung, Malin Kvarnung, Peter Gustafsson, Peter Gustafsson, Britt-Marie Anderlid, Britt-Marie Anderlid, Cecilia Arthur, Cecilia Arthur, Jonas Carlsten, Jonas Carlsten, Karl De Geer, Karl De Geer, Emma Ehn, Emma Ehn, Giedre Grigelioniené, Giedre Grigelioniené, Anna Hammarsjö, Anna Hammarsjö, Hafdis T. Helgadottir, Hafdis T. Helgadottir, Maritta Hellström-Pigg, Maritta Hellström-Pigg, Erik Iwarsson, Erik Iwarsson, Ekaterina Kuchinskaya, Ekaterina Kuchinskaya, Hillevi Lindelöf, Hillevi Lindelöf, Maria Mannila, Maria Mannila, Daniel Nilsson, Daniel Nilsson, Maria Pettersson, Maria Pettersson, Eva Rudd, Eva Rudd, Ellika Sahlin, Ellika Sahlin, Bianca Tesi, Bianca Tesi, Emma Tham, Emma Tham, Håkan Thonberg, Håkan Thonberg, Eini Westenius, Eini Westenius, Johanna Winberg, Johanna Winberg, Max Winerdal, Max Winerdal, Magnus Nordenskjöld, Magnus Nordenskjöld, Maria Johansson-Soller, Maria Johansson-Soller, Valtteri Wirta, Valtteri Wirta, Ann Nordgren, Ann Nordgren, Anna Lindstrand, Anna Lindstrand, Kristina Lagerstedt-Robinson, Kristina Lagerstedt-Robinson

“…Our current protocol for trio analysis is based on genome sequencing data, which allows for simultaneous detection of single nucleotide variants, insertion/deletions, structural variants, expanded short tandem repeats, as well as a copy number analysis corresponding to an array-CGH, and analysis regarding SMN1 gene copies.…”
Get full text

Optimizing the single-step model for predicting fumonisins resistance in maize hybrids accounting for the genotype-by-environment interaction by Jeniffer Santana Pinto Coelho Evangelista, Jeniffer Santana Pinto Coelho Evangelista, Kaio Olimpo das Graças Dias, Maria Marta Pastina, Saulo Chaves, Lauro José Moreira Guimarães, Jorge Hidalgo, Julian Garcia-Abadillo, Julian Garcia-Abadillo, Reyna Persa, Valéria Aparecida Vieira Queiroz, Dagma Dionísia da Silva, Leonardo Lopes Bhering, Diego Jarquin

“…We examined different manners to conduct the prediction of FUMO contamination using genomic and pedigree data, and combinations of these two via the single step model (B-matrix) which also offers the possibility of increasing training set sizes. …”
Get full text

體驗教育對建構大學生心理資本之研究 Effect of Experiential Education on College Students’ Psychological Capital Development by 陳淑媛 Shu-Yuan Chen, 許于仁 Yu-Ren Hsu

“…Quantitative data were collected from 31 valid responses submitted by 18 female and 13 male participants. 2. …”
Get full text

Evidence of microbial reductive dehalogenation in deep-sea cold seeps and its implications for biogeochemical cycles by Yingchun Han, Zhaochao Deng, Yongyi Peng, Jiaxue Peng, Lei Cao, Yangru Xu, Yi Yang, Hao Zhou, Chen Zhang, Dongdong Zhang, Minxiao Wang, Chunfang Zhang, Chris Greening, Xiyang Dong

“…Additionally, RdhA-like proteins from cold seeps have diverse N-terminal structures across different gene groups. Conclusions These findings collectively suggest that reductive dehalogenation is an important process in deep-sea environments, mediated by a diverse array of microbes and novel enzymes. …”
Get full text

Cultivar-Dependent Variations in the Microbiome of Grapevine Leaves by Raúl Castanera, Víctor M. González-Miguel, Glòria Escolà, Marta Olivé, Neus Teixidó, Robert Savé, Josep María Casacuberta, Blanca San Segundo

“…Differences in the fungal and bacterial community structures were observed between varieties, although they were more important in fungi. …”
Get full text

Type 2 gene expression signature in severe asthma associates with more advanced airway remodeling by Bogdan Jakiela, Karolina Górka, Iwona Gross‐Sondej, Sławomir Mikrut, Krzysztof Okoń, Piotr Sadowski, Anna Andrychiewicz, Hanna Plutecka, Tomasz Stachura, Grażyna Bochenek, Stanisława Bazan‐Socha, Krzysztof Sładek, Jerzy Soja

“…Severe asthma is linked to reduced ventilatory function due to airway structural changes. This study compared the extent of airway remodeling in different immunological endotypes of asthma. …”
Get full text

Exploring the relationship between intrinsic capacity and social participation in healthy ageing: Evidence from Singapore by Grace Cheong, William Tov, Robin Wai Munn Choo, Micah Tan, Lay Khoon Lau, Wee Shiong Lim, Yew Yoong Ding, Paulin Tay Straughan

“…We performed structural equation modelling to compare the direct and indirect effects (mediated by IADLs) of intrinsic capacity on social participation. …”
Get full text

Endothelial Damage in Sepsis: The Interplay of Coagulopathy, Capillary Leak, and Vasoplegia—A Physiopathological Study by Gianni Turcato, Arian Zaboli, Lucia Filippi, Alessandro Cipriano, Paolo Ferretto, Michael Maggi, Fabrizio Lucente, Massimo Marchetti, Lorenzo Ghiadoni, Christian J. Wiedermann

“…The Sepsis-Induced Coagulopathy (SIC) score, serum albumin (as a surrogate for capillary leak), and Total Peripheral Resistance Index (TPRI) (as a surrogate for vasoplegia) were assessed. Structural Equation Modeling (SEM) explored the relationship between variables, hypothesizing a common latent factor (endothelial damage). …”
Get full text

THE ARTISTIC POTENTIAL OF CHORAL CONDUCTING IN CONTEMPORARY UKRAINE by Lyudmyla SHUMSKA, Yuliia PUCHKO-KOLESNYK, Lyudmyla KOSTENKO, Oleksandr VILA-BOTSMAN, Olha MARTYNOVSKA

“…As part of the methodological approach to the study, a comparative and structural analysis was applied, including the processing of statistical data on choral performances on the YouTube platform, as well as an analysis of the use of modern technologies in Ukrainian music institutions based on open sources. …”
Get full text

Investigation of 3D iris morphology early alteration after implantable collamer lens implantation by using SS-OCT by Zhengwei Zhang, Shuimiao Chang, Kaiwen Li, Jinhan Yao, Zhao Wang, Jiewei Liu, Lin Jiang, Feiyan Chai, Xiaogang Wang

“…Purpose: Using a fully automated multitask deep learning method, which enabled simultaneous segmentation and quantification of all major anterior segment structures with swept-source optical coherence tomography (SS-OCT), we aimed to investigate the three-dimensional (3D) alterations in iris morphology before and after implantable collamer lens (ICL) surgery. …”
Get full text

Simulation of Image-Guided Microwave Ablation Therapy Using a Digital Twin Computational Model by Frankangel Servin, Jarrod A. Collins, Jon S. Heiselman, Katherine C. Frederick-Dyer, Virginia B. Planz, Sunil K. Geevarghese, Daniel B. Brown, William R. Jarnagin, Michael I. Miga

“…Healthcare digital twins (DTs) are anatomically one-to-one biophysical models constructed from structural, functional, and biomarker-based imaging data to simulate patient-specific therapies and guide clinical decision-making. …”
Get full text

Comprehensive Genome-Wide Characterization of L-Type Lectin Receptor-like Kinase (L-LecRLK) Genes in Wheat (<i>Triticum aestivum</i> L.) and Their Response to Abiotic Stress by Wan Zhao, Fuyan Zhang, Jiahuan Wang, Shuai Fang, Zhongjie Cheng, Xuhui Ma, Jialin Fan, Zhaoshi Xu, Xiaojie Chen

“…The <i>TaL-LecRLK</i> genes displayed diverse exon-intron structures and conserved motif compositions. Promoter analysis revealed a <i>cis</i>-element associated with hormone signaling and abiotic stress responses. …”
Get full text

High-throughput evaluation of half-metallicity of Co2MnSi Heusler alloys using composition-spread films and spin-integrated hard X-ray photoelectron spectroscopy by Ryo Toyama, Shunsuke Tsuda, Yuma Iwasaki, Thang Dinh Phan, Susumu Yamamoto, Hiroyuki Yamane, Koichiro Yaji, Yuya Sakuraba

Get full text

Deep learning-based computational approach for predicting ncRNAs-disease associations in metaplastic breast cancer diagnosis by Saleem Ahmad, Imran Zafar, Shaista Shafiq, Laila Sehar, Hafsa Khalil, Nida Matloob, Mehvish Hina, Sidra Tul Muntaha, Hamid Khan, Najeeb Ullah Khan, Samreen Rana, Ahsanullah Unar, Muhammad Azmat, Muhammad Shafiq, Yousef A. Bin Jardan, Musaab Dauelbait, Mohammed Bourhia

“…SHAP analysis identified key sequence motifs (e.g., "UUG") and structural free energy (ΔG = − 12.3 kcal/mol) as critical predictors, validated by PCA (82% variance) and t-SNE clustering. …”
Get full text

Decentralized fintech platforms adoption intention in cyber risk environment among GenZ: A dual-method approach using PLS-SEM and necessary condition analysis by Md Sharif Hassan, Nguyen Hong Mai, Nor Shaipah Abdul Wahab, Mohammad Bin Amin, Md Maruf Hassan, Judit Oláh

“…A total of 391 valid responses were received. The data were analyzed through partial least squares structural equation modeling (PLS-SEM) and necessary condition analysis (NCA). …”
Get full text

Comparison of Molnupiravir Exposure‐Response Relationships for Virology Response and Mechanism of Action Biomarkers With Clinical Outcomes in Treatment of COVID‐19 by Akshita Chawla, Ruthie Birger, Brian M. Maas, Youfang Cao, Hong Wan, Julie Strizki, Arthur Fridman, Amanda Paschke, Carisa deAnda, Wei Gao, Matthew L. Rizk, Wendy Painter, Wayne Holman, Susanne Sardella, George Painter, Julie A. Stone

“…Exposure‐response (E‐R) analyses for viral RNA mutation rate and virologic outcomes were conducted using data from three phase 2/3 studies of molnupiravir (P006, MOVe‐IN, and MOVe‐OUT). …”
Get full text

Mapping rapeseed (Brassica napus L.) aboveground biomass in different periods using optical and phenotypic metrics derived from UAV hyperspectral and RGB imagery by Chuanliang Sun, Chuanliang Sun, Weixin Zhang, Genping Zhao, Qian Wu, Wanjie Liang, Ni Ren, Hongxin Cao, Lidong Zou, Lidong Zou

“…Vegetation indices (VI), texture features (TF), and structural features (SF) were extracted from UAV hyperspectral and ultra-high-resolution RGB images to assess their correlation with rapeseed biomass at different growth stages. …”
Get full text

Sustainable Placemaking and Thermal Comfort Conditions in Urban Spaces: The Case Study of Avenida dos Aliados and Praça da Liberdade (Porto, Portugal) by Hélder Silva Lopes, Paula C. Remoaldo, Diogo Guedes Vidal, Vítor Ribeiro, Lígia Torres Silva, Javier Martín-Vide

“…Furthermore, the study underscored the significance of incorporating adaptive elements, such as greenery, shading structures, and ventilation corridors, into urban design to enhance comfort across different seasons. …”
Get full text

Human microbiome-derived peptide affects the development of experimental autoimmune encephalomyelitis via molecular mimicryResearch in context by Xin Ma, Jian Zhang, Qianling Jiang, Yong-Xin Li, Guan Yang

“…Of note, half of these analogs could bind to MHC II and interact with TCR through structural modeling of the interaction using fine-tuned AlphaFold. …”
Get full text

Integrative DNA methylome and transcriptome analysis identify potential genes on the influence of dilated cardiomyopathy-associated heart failure by Zhenglong Guo, Yunfei Liu, Zhiming Zhou, Jianchao Chen, Lin Guo, Keke Liang, Yibin Hao, Bingtao Hao, Bin Yang, Shixiu Liao

“…Conclusions These findings suggest that the epigenetic dysregulation of cardiac stress-response and structural genes contributes to the pathogenesis of DCM-HF. …”
Get full text