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Background With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking. Methods In this study, we introduced a whole WGS pipeline for genetic disorders, which included the entire process from obtaining a sample to clinical reporting. All samples that underwent WGS were constructed using polymerase chain reaction (PCR)-free library preparation protocols and sequenced on the MGISEQ-2000 platform. Bioinformatics pipelines were developed for the simultaneous detection of various types of variants, including single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs) and balanced rearrangements, mitochondrial (MT) variants, and other complex variants such as repeat expansion, pseudogenes and absence of heterozygosity (AOH). A semiautomatic pipeline was developed for the interpretation of potential SNVs and CNVs. Forty-five samples (including 14 positive commercially available samples, 23 laboratory-held positive cell lines and 8 clinical cases) with known variants were used to validate the whole pipeline. Results In this study, a whole WGS pipeline for genetic disorders was developed and optimized. Forty-five samples with known variants (6 with SNVs and Indels, 3 with MT variants, 5 with aneuploidies, 1 with triploidy, 23 with CNVs, 5 with balanced rearrangements, 2 with repeat expansions, 1 with AOHs, and 1 with exon 7–8 deletion of SMN1 gene) validated the effectiveness of our pipeline. Conclusions This study has been piloted in test development, optimization, and validation of the WGS pipeline for genetic disorders. A set of best practices were recommended using our pipeline, along with a dataset of positive samples for benchmarking.

In high-throughput phenotyping, recognizing individual plant categories is a vital support process for plant breeding. However, different plant categories have different fine-grained characteristics, i.e., intra-class variation and inter-class similarity, making the process challenging. Existing deep learning-based recognition methods fail to effectively address this recognition task under challenging requirements, leading to technical difficulties such as low accuracy and lack of generalization robustness. To address these requirements, this paper proposes PlantNet, a fine-grained network for plant recognition based on transfer learning and a bilinear convolutional neural network, which achieves high recognition accuracy in high-throughput phenotyping requirements. The network operates as follows. First, two deep feature extractors are constructed using transfer learning. The outer product of the different spatial locations corresponding to the two features is then calculated, and the bilinear convergence is computed for the different spatial locations. Finally, the fused bilinear vectors are normalized via maximum expectation to generate the network output. Experiments on a publicly available Arabidopsis dataset show that the proposed bilinear model performed better than related state-of-the-art methods. The interclass recognition accuracy of the four different species of Arabidopsis Sf-2, Cvi, Landsberg and Columbia are found to be 98.48%, 96.53%, 96.79% and 97.33%, respectively, with an average accuracy of 97.25%. Thus, the network has good generalization ability and robust performance, satisfying the needs of fine-grained plant recognition in agricultural production.

Additional file 1. Supporting information.

Nickel cobalt sulfides (Ni-Co-S) have been extensive developed as platinum-free counter electrode (CE) materials for dye-sensitized solar cells (DSCs). However, the power conversion efficiency (PCE) of DSCs with Ni-Co-S CEs needs to be further improved by changing crystalline structure of Ni-Co-S. Herein, Ni-Co-S with amorphous structure have been synthesized on fluorine-doped tin oxide (FTO) glass by a potential reversal electrodeposition technique. The morphology of Ni-Co-S films can be controlled through adjusting the molar ratio of Ni and Co ions in the electroplating solution. Ni-Co-S films can be directly applied as low-cost CEs of DSCs. The results demonstrate that Ni-Co-S CEs exhibit excellent electrocatalytic performance for I3− reduction, owing to the synergistic effect and amorphous structure of Ni-Co-S films. Particularly, the DSC based on Ni-Co-S CE with the optimized Ni/Co ratio has achieved the high PCE of 8.18%, which is larger than that of the DSC with platinum (Pt) CE (6.33%).

Additional file 1: Figure S1. Map of Guangdong Province, China, highlighting the sentinel surveillance cities. Figure S2. Predicted probability curve. Table S1. Quantification of syphilis infection influencing factors.

Trabajo fin de máster. Defendido en [2021] Bibliografía: p. 253-258 (Según el contador de la aplicación) En el ámbito de la enseñanza-aprendizaje de idiomas, se hace hincapié en la importancia de utilizar materiales auténticos en el aula. Como una perfecta combinación de dibujos y textos, el cómic se suele emplear como elemento motivador en las clases. Sin embargo, en este trabajo, exploramos otras posibilidades de explotación de este género, con la finalidad de desarrollar la competencia comunicativa de los aprendices. Nuestro objetivo principal consiste en diseñar una propuesta didáctica mediante el uso de cómics actuales para enseñar el componente sociocultural y pragmático del español a aprendices sinohablantes universitarios. A través de una tipología de actividades divididas en tres fases (pre-lectura, lectura y pos-lectura), prestamos especial atención al uso real de la lengua española, la cortesía verbal, las estrategias y tácticas pragmáticas, los aspectos sociopragmáticos y la adecuación . Todo ello, desde una perspectiva intercultural que anima a los estudiantes a reflexionar acerca de aspectos sociopragmáticos y pragmalingüísticos tomando como punto de partida la cultura china. Se intenta demostrar que el cómic puede dejar de ser un material complementario y pasar a ocupar un lugar central en el aula para practicar las distintas destrezas y desarrollar las competencias comunicativas, pragmática e intercultural. Abstract: In the field of language teaching-learning, the importance of using authentic materials in the classroom is emphasized. As a perfect combination of drawings and texts, the comic is often used as a motivational element in classes. However, in this paper, we explore other possibilities of exploitation of this genre, in order to develop the communicative competence of the learners. Our main objective is to design a didactic proposal through the use of current comics to teach the sociocultural and pragmatic component of Spanish to Chinese university Spanish-major students. Through a typology of activities divided into three phases (prereading, while-reading and post-reading), we pay special attention to the actual use of the Spanish language, verbal courtesy, pragmatic strategies and tactics, sociopragmatic aspects and adequacy. All this, from an intercultural perspective that encourages students to reflect on sociopragmatic and pragmalinguistic aspects, taking Chinese culture as a starting point. The aim is to show that the comic can stop being a complementary material and occupy a central place in the classroom to practice different skills and develop communicative, pragmatic and intercultural skills. Ordenador con navegador de Internet ; Adobe Acrobat Reader En port.: Máster Universitario en Didáctica del Español como Lengua Extranjera. 259 p. (Según el contador de la aplicación)

WGS/WES技术应用于超声异常胎儿的辅助诊断

Xuan Liu,* Ziying Yang,* Jiacheng Sun, Teng Ma, Fei Hua, Zhenya ShenDepartment of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Soochow University, Suzhou, People’s Republic of China*These authors contributed equally to this workAbstract: Multipotent mesenchymal stem cells have shown great promise for application in regenerative medicine owing to their particular therapeutic effects, such as significant self-renewability, low immunogenicity, and ability to differentiate into a variety of specialized cells. However, there remain certain complicated and unavoidable problems that limit their further development and application. One of the challenges is to noninvasively monitor the delivery and biodistribution of transplanted stem cells during treatment without relying on behavioral endpoints or tissue histology, and it is important to explore the potential mechanisms to clarify how stem cells work in vivo. To solve these problems, various nanoparticles (NPs) and their corresponding imaging methods have been developed recently and have made great progress. In this review, we mainly discuss NPs used to label stem cells and their toxic effects on the latter, the imaging techniques to detect such NPs, and the current existing challenges in this field.Keywords: mesenchymal stem cells, nanoparticles, toxic effects, imaging methods

Background Deep vein thrombosis (DVT) is caused by blood clotting in the deep veins. Thrombosis resolution and recanalization can be accelerated by endothelial progenitor cells. In this report, we investigated the effects of miR-126-loaded EPC-derived exosomes (miR-126-Exo) on EPCs function and venous thrombus resolution. Methods In vitro promotional effect of miR-126-Exo on the migration and tube incorporation ability of EPCs was investigated via transwell assay and tube formation assay. In addition, a mouse venous thrombosis model was constructed and treated with miR-126-Exo to clarify the therapeutic effect of miR-126-Exo by histological analysis. Lastly, this study predicted a target gene of miR-126 using target prediction algorithms and confirmed it by luciferase activity assay, RT-qPCR, and Western blot. Results Transwell assay and tube formation assay indicated that miR-126-Exo could enhance the migration and tube incorporation ability of EPCs. Moreover, in vivo study manifested enhanced thrombus organization and recanalization after miR-126-Exo treatment. Meanwhile, we identified that Protocadherin 7 as a target gene of miR-126. Conclusions To sum up, our results demonstrated that EPC-derived exosomes loaded with miR-126 significantly promoted thrombus resolution in an animal model of venous thrombosis, indicating exosomes as a promising potential vehicle carrying therapeutic molecules for DVT therapy.