Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants by Taha Reşid Özdemir, Pınar Gençpınar, Roza Sarıteke, Safa M Dagdas, Senay Haspolat, Bedile I Tiftikcioglu, Nihal Olgaç Dündar, Berk Özyılmaz

“…Methods: Between 2019 and 2024, 74 patients from 71 families underwent genetic evaluation for germline mutations in 41 HSP-associated genes using a targeted next-generation sequencing panel, with Sanger sequencing performed on family members of patients with identified pathogenic variants to confirm segregation. …”
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Evaluating sex-specific responses to western diet across the lifespan: impact on cardiac function and transcriptomic signatures in C57BL/6J mice at 530 and 640/750 days of age by Ani Stepanyan, Agnieszka Brojakowska, Roksana Zakharyan, Siras Hakobyan, Suren Davitavyan, Tamara Sirunyan, Gisane Khachatryan, Mary K. Khlgatian, Malik Bisserier, Shihong Zhang, Susmita Sahoo, Lahouaria Hadri, Amit Rai, Venkata Naga Srikanth Garikipati, Arsen Arakelyan, David A. Goukassian

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Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study by Junji Hu, Min Xin, Jinxiu Liu, Hongxing Li, Xuemei Li, Longchang Chen, Ping Yang, Haiyan Zhao, Pengfei Sun, Guodong Gao, Hu Feng, Zhongxia Li, Guang Xiao, Yu Li, Kun Li, Xinsheng Xu

“…Copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) have emerged as effective tools for identifying genetic causes in patients with unexplained epilepsy. …”
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Genomic approach to evaluate the intrinsic antibacterial activity of novel diazabicyclooctanes (zidebactam and nacubactam) against clinical Escherichia coli isolates from diverse c... by Farah Al-Marzooq, Akela Ghazawi, Maitha Alshamsi, Abdulrahman Alzaabi, Omar Aleissaee, Hamad Almansoori, Abdullah Alsaadi, Rauda Aldhaheri, Hafsa Ahli, Lana Daoud, Amna Ahmad, Timothy Collyns, Seema Oommen

“…The strains were then grouped according to phenotypic and genotypic profiles. Whole-genome sequencing was employed to characterize the genetic landscape and clonality of selected 32 strains. …”
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Polygraph: a software framework for the systematic assessment of synthetic regulatory DNA elements by Avantika Lal, Laura Gunsalus, Anay Gupta, Tommaso Biancalani, Gokcen Eraslan

“…Here, we introduce Polygraph, a Python framework that evaluates synthetic DNA elements, based on features like diversity, motif and k-mer composition, similarity to endogenous sequences, and screening with predictive and foundational models. …”
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Novel Algorithm for Joint Channel Estimation and Spreading Sequence Detection in DSSS Systems by Seungjun Oh, Hichan Moon

“…In this paper, a novel turbo-based algorithm is proposed for joint channel estimation and spreading sequence detection in a Direct Sequence Spread Spectrum (DSSS) system. …”
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Research on optimization method for excavation sequence of deep chamber groups by ZANG Jincheng, LI Donghao, ZHANG Lu, SUN Lingfeng, HUANG Yubing

“…Based on the overall optimization principle of minimizing the total deformation of the chamber group as the primary objective and minimizing the mutual disturbance between excavations as the secondary objective， a method for evaluating and optimizing the excavation sequence of deep chamber groups was proposed. …”
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Cooperativity among short amyloid stretches in long amyloidogenic sequences. by Lele Hu, Weiren Cui, Zhisong He, Xiaohe Shi, Kaiyan Feng, Buyong Ma, Yu-Dong Cai

“…In this study, we combined machine learning and structure-based energy evaluation to examine and predict amyloidogenic segments. …”
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Soil genesis in a marine terrace sequence of Sicily, Italy by Stephen Wagner, Edoardo A.C. Costantini, Daniela Sauer, Karl Stahr

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Evaluating climate-related financial policies’ impact on decarbonization with machine learning methods by Paola D’Orazio, Anh-Duy Pham

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Compressive Optical Spectrometry Based on Sequency-Ordered Hadamard Transform by Yi Zhang, Jian Kang, Chao-Mao Hsieh, Quan Liu

“…We propose a compressive Hadamard transform spectrometer (CHTS) based on the energy compaction trait of the sequency-ordered Hadamard matrix (SOHM), in which the spectrum is reconstructed from compressed measurements using simple matrix multiplication. …”
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Next-generation sequencing for endocrine cancers: Recent advances and challenges by Padmanaban S Suresh, Thejaswini Venkatesh, Rie Tsutsumi, Abhishek Shetty

“…A comprehensive review describing the recent advances in next-generation sequencing methods and their application in the evaluation of endocrine and endocrine-related cancers is lacking. …”
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Cambrian infill sequence and sedimentary evolution in southwestern Tarim Basin by LUO Shaohui,WANG Rongying,YUE Yong,LI Bin,WEI Huadong,JIN Xianmei,JIANG Zhongzheng,CAO Yang

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Mutation Scanning in Wheat by Exon Capture and Next-Generation Sequencing. by Robert King, Nicholas Bird, Ricardo Ramirez-Gonzalez, Jane A Coghill, Archana Patil, Keywan Hassani-Pak, Cristobal Uauy, Andrew L Phillips

“…We performed a pilot-scale evaluation of TILLING in wheat by next-generation sequencing through exon capture. …”
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Protein sequence classification using natural language processing techniques by Huma Perveen, Julie Weeds

“…We compared various machine learning and deep learning models under two different data-splitting strategies: random splitting and ECOD family-based splitting, which ensures evolutionary-related sequences are grouped together. Methods The study evaluated models such as K-Nearest Neighbors (KNN), Multinomial Naïve Bayes, Logistic Regression, Multi-Layer Perceptron (MLP), Decision Tree, Random Forest, XGBoost, Voting and Stacking classifiers, Convolutional Neural Network (CNN), Long Short-Term Memory (LSTM), and transformer models (BertForSequenceClassification, DistilBERT, and ProtBert). …”
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Evaluation of Streptomyces sporoverrucosus B-1662 for biological control of red pepper anthracnose and apple bitter rot diseases in Korea by DaYoung Kim, Jungyeon Kim, Younmi Lee, Kotnala Balaraju, Ye-Ji Hwang, Mi-Hwa Lee, Wonsu Cheon, Hye Yeon Mun, Chang Soo Lee, Yongho Jeon

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Quality Evaluation of Whole Wheat Sourdough Fermented at Different Temperatures and Diversity Analysis and Breeding Selection of Lactic Acid Bacteria by Bo WANG, Weiqing ZHANG, Han GAO, Chao WANG, Yuchun LIU, Chao GUO

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Comparative Analysis of Metagenomic Next-Generation Sequencing, Sanger Sequencing, and Conventional Culture for Detecting Common Pathogens Causing Lower Respiratory Tract Infection... by Qiaolian Yi, Ge Zhang, Tong Wang, Jin Li, Wei Kang, Jingjia Zhang, Yali Liu, Yingchun Xu

“…Metagenomic next-generation sequencing (mNGS) has emerged as a revolutionary tool for infectious disease diagnostics. …”
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Applying of Kutter-Jordan-Bossen steganography algorithm to video sequences by N. V. Lysenko, G. M. Labkov

“…The possibility of operating of the algorithm of Kutter-Jordan-Bossen in video sequences in real time is considered. The influence of different types of noise on the algorithm stability is evaluated. …”
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Application of targeted metagenomic next-generation sequencing in pneumonia patients by Guanjun Ren, Liyun Ma, Chunliang Yan, Qishan Xue, Huijuan Zhang, Wei Wang, Xiyan Ren, Yun Lei, Shaofei Li, Yafeng Liu, Qingyue Zheng, Shigang Wei, Yue Zhang, Xiao Wang

“…Additionally, chNGS combined with tNGS can improve the TCR to 81.3% (95% CI, 62.1%–100.0%).IMPORTANCEThis is the first report on evaluating the performance of capture hybridization-based metagenomicnext-generation sequencing (chNGS), multiplex PCR-based targeted mNGS (tNGS), and conventional methods in diagnosing pneumonia. …”
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