Revealing genes related teat number traits via genetic variation in Yorkshire pigs based on whole-genome sequencing by Jialin Wei, Jingchun Sun, Yi Pan, Minghao Cao, Yulong Wang, Tiantian Yuan, Ao Guo, Ruihua Han, Xiangdong Ding, Gongshe Yang, Taiyong Yu, Rongrong Ding

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Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis by Elizabeth Gorman, Hongzheng Dai, Hongzheng Dai, Yanming Feng, William James Craigen, William James Craigen, David C. Y. Chen, Fan Xia, Fan Xia, Linyan Meng, Linyan Meng, Pengfei Liu, Pengfei Liu, Robert Rigobello, Arpita Neogi, Christine M. Eng, Christine M. Eng, Yue Wang, Yue Wang

“…IntroductionThe molecular diagnosis of mitochondrial disorders is complicated by phenotypic variability, genetic heterogeneity, and the complexity of mitochondrial heteroplasmy. Next-generation sequencing (NGS) of the mitochondrial genome in combination with a targeted panel of nuclear genes associated with mitochondrial disease provides the highest likelihood of obtaining a comprehensive molecular diagnosis. …”
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An integrative scoring approach for prioritization of rare autism spectrum disorder candidate variants from whole exome sequencing data by Apurba Shil, Noa Arava, Noam Levi, Liron Levine, Hava Golan, Gal Meiri, Analya Michaelovski, Yair Tsadaka, Adi Aran, Idan Menashe

“…Abstract Discerning clinically relevant autism spectrum disorder (ASD) candidate variants from whole-exome sequencing (WES) data is complex, time-consuming, and labor-intensive. …”
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Invasive Community-Acquired Methicillin-Resistant Staphylococcus aureus: Antibiotic Resistance, Virulence and Clonal Characteristics by Whole Genome Sequencing by Ufuk Hasdemir, Burak Aksu, Dilek Yağcı Çağlayık, Nurver Ulger Toprak, Arzu Ilki, Volkan Korten

“…AIM: Community Acquired - Methicillin Resistant Staphylococcus aureus (CA-MRSA), causes serious infections such as necrotizing pneumonia and sepsis. We evaluated SCC-mec types, clonal and virulence properties, and antibiotic resistance of invasive MRSA strains isolated in our hospital by whole genome sequencing (WGS). …”
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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era by Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero

“…Depending on the clinical presentation of the patients, direct gene or panel sequencing may be the preferred method nowadays. However, histological and ultrastructural examinations of muscle sections are still frequently useful and can constitute an elemental step in the diagnostic process—either by directing purposeful gene sequencing or pointing to genes and pathogenic variants identified by next-generation sequencing (NGS), or by complementing clinical findings and biochemical analysis methods.…”
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Biostimulants based nutrient management on growth and yield of spring maize (Zea mays) under legume based cropping sequence by B R PRAVEEN, MAGAN SINGH, R T CHETHAN BABU, SANJEEV KUMAR, RUXANABI NARAGUND, K S SACHIN, PRASANNA S PYATI, RAKESH KUMAR, KASHINATH GURUSIDDAPPA TELI

“… The study was carried out during 2020–21 and 2021–22 at ICAR-National Dairy Research Institute, Karnal, Haryana to evaluate biostimulants based nutrient management practices in spring maize (Zea mays L.) under legume based cropping sequence. …”
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Utilizing Targeted Next-Generation Sequencing for Rapid, Accurate, and Cost-Effective Pathogen Detection in Lower Respiratory Tract Infections by Qin L, Liang M, Song J, Chen P, Zhang S, Zhou Y, Li H, Tang J, Ma Y, Yang B, Xu J, Zhang J

“…Lisha Qin,1,* Mengyuan Liang,1,2,* Jianping Song,1,* Ping Chen,1,* Shujing Zhang,3,* Yaya Zhou,1 Hui Li,1 Jian Tang,1 Yanling Ma,1 Bohan Yang,1 Juanjuan Xu,1 Jianchu Zhang1 1Department of Respiratory and Critical Care Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, People’s Republic of China; 2Department of Respiratory and Critical Care Medicine, Zhengzhou University People’s Hospital, Henan Provincial People’s Hospital, Zhengzhou, People’s Republic of China; 3Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, People’s Republic of China*These authors contributed equally to this workCorrespondence: Jianchu Zhang, Department of Respiratory and Critical Care Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, People’s Republic of China, Tel +86-13971445469, Email zsn0928@163.comObjective: To evaluate the diagnostic performance and clinical impact of targeted next-generation sequencing (tNGS) in patients with suspected lower respiratory tract infections.Methods: Following propensity score matching, we compared the diagnostic performances of tNGS and metagenomic next-generation sequencing (mNGS). …”
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Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case–control study by Coskun S, Varol S, Ozdemir HH, Bulut Celik S, Balduz M, camkurt MA, Cim A, Arslan D, Cevik MU

“…Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5' nuclease assays, which include sequence specific primers, and probes with a reporter dye. …”
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The application of endoscopic debridement combined with metagenomic next-generation sequencing technology in primary spinal infections: a retrospective study by Xiaofei Feng, Jie Cheng, Luyong Jiang, Jiayi Lin, Zhewei Ye, Qingjiang Pang, Jiangtao Liu

“…Metagenomic next-generation sequencing (mNGS) is a new method for identifying infectious microorganisms in infectious diseases. …”
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Multi‐sequence MRI‐based clinical‐radiomics models for the preoperative prediction of microsatellite instability‐high status in endometrial cancer by Zhuang Li, Yi Su, Yongbin Cui, Yong Yin, Zhenjiang Li

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Detection of Ureaplasma parvum in amniotic fluids via reanalysis of prenatal copy number variation sequencing data: an exploratory study by Guan Wang, Guan Wang, Weifen Chen, Xiaodan Chen, Hongying Hou, Jun Zhang, Jun Zhang, Zhenyan Han

“…Given its similarity to metagenomic next-generation sequencing, copy number variation sequencing (CNV-seq) data may also contain microbial sequences. …”
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Screening, Identification, and Whole-Genome Sequencing of Ferulic Acid Esterase-Producing Lactic Acid Bacteria from Sheep Rumen by Mingxin Qiu, Yong Chen, Lei Wang, Luyu Li, Xiao Zhang, Zhuang Ma, Jiancheng Liu

“…In this study, two LAB strains (Q2 and Q6) with FAE activity were isolated from sheep rumen. Based on 16S rDNA sequencing, they were identified as <i>Lactobacillus mucosae</i> and <i>Streptococcus equinus</i>, respectively. …”
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Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease by Elisa Rubino, Maria Italia, Elisa Giorgio, Silvia Boschi, Paola Dimartino, Tommaso Pippucci, Fausto Roveta, Clara Maria Cambria, Gabriella Elia, Andrea Marcinnò, Salvatore Gallone, Ekaterina Rogaeva, Flavia Antonucci, Alfredo Brusco, Fabrizio Gardoni, Innocenzo Rainero

“…This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant. Methods Affected and unaffected members from a Northern Italian family were included. …”
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Characterization of Rotavirus strains responsible for break-through diarrhoeal disease among Zambian children using whole genome sequencing by Prof Corena De Beer, Mr Innocent Mwape, Ms Natasha Makabilo Laban, Dr Kennedy Chibesa, Mr Andrew Moono, Mr Suwilanji Silwamba, Dr Moffat Mulemena Malisheni, Ms Caroline Chisenga, Mr Adriace Chauwa, Dr Paul Simusika, Mr Mabvuto Phiri, Mr Michelo Simuyandi, Mr Roma Chilengi, Mr David Ojok

“…This study characterised Rotavirus strains detected in fully vaccinated under five-year-old children residing in Zambia using next generation sequencing. Methods: This was a case study nested under an open label randomised controlled Rotavirus vaccine clinical trial that evaluated safety and immune boosting effects of a third dose of Rotarix compared to a two-dose schedule. …”
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Fast report: performance of the ETAS model in forecasting aftershock occurrence and site-specific ground-shaking intensity for the 2025 Dapu, Taiwan, earthquake sequence by Ming-Che Hsieh, Min-Hsuan Chang, Yu-Chen Tai, Chun-Te Chen, Ting-Ying Lu

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STATISTICAL EVALUATION OF FATIGUE DATA OF COMPONENTS by Chi Nghia Chung, Zoltan Major

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A Novel Approach Based on Hypergraph Convolutional Neural Networks for Cartilage Shape Description and Longitudinal Prediction of Knee Osteoarthritis Progression by John B. Theocharis, Christos G. Chadoulos, Andreas L. Symeonidis

“…The predictor is a spatio-temporal <i>HGCN</i> network (<i>ST_HGCN</i>), following the sequence-to-sequence learning scheme. Concretely, it transforms sequences of knee representations at the historical stage into sequences of <i>KOA</i> predictions at the prediction stage. …”
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A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss by Ladan Sadeghian, Marziyeh Hoseinzadeh, Mohammad reza Pourreza, Saeed Khalili, Najmeh Fattahi, Mohammad Amin Tabatabaiefar

“…This study aimed to identify the genetic cause of autosomal recessive non-syndromic hearing loss (ARNSHL) in a large Iranian family using next-generation sequencing and structural bioinformatics. Methods After a comprehensive clinical evaluation of a large family with a history of HL the GJB2 gene was sequenced, and 7 loci were screened through genetic linkage analysis. …”
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Pour une analyse des savoirs enseignés en classe de langue by Khedoudja Meziane, Abdenour Arezki

“…Our goal is, on the one hand, to highlight the knowledge taught and to evaluate it in the light of the current theoretical data in language teaching; and on the other hand, to consider the organization and progress of this knowledge relying on the concepts of ‘core’ and ‘sequence’ of ‘didactisation’.…”
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Analysis Methods and Model of New Energy Developing Roadmap in China by Guohui XIE, Nana LI, Bo YUAN

“…This paper put forward a set of analysis methods and models of development roadmap involving resources evaluations, total capacity, developing sequences and layout according to energy development strategy and characteristics of new energy development in China. …”
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