Showing 441 - 460 results of 7,711 for search '"sequencing"', query time: 0.07s Refine Results
  1. 441

    Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing by Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

    Published 2024-12-01
    “…Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. …”
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  2. 442
  3. 443

    GS-DTA: integrating graph and sequence models for predicting drug-target binding affinity by Junwei Luo, Ziguang Zhu, Zhenhan Xu, Chuanle Xiao, Jingjing Wei, Jiquan Shen

    Published 2025-02-01
    “…Results In this paper, we propose a new method, called GS-DTA, for predicting DTA based on graph and sequence models. GS-DTA takes simplified molecular input line input system (SMILES) of the drug and the protein amino acid sequence as input. …”
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  4. 444

    A single-nucleus RNA sequencing atlas of the postnatal retina of the shark Scyliorhinus canicula by Nicolás Vidal-Vázquez, Ismael Hernández-Núñez, Pablo Carballo-Pacoret, Sarah Salisbury, Paula R. Villamayor, Francisca Hervas-Sotomayor, Xuefei Yuan, Francesco Lamanna, Céline Schneider, Julia Schmidt, Sylvie Mazan, Henrik Kaessmann, Fátima Adrio, Diego Robledo, Antón Barreiro-Iglesias, Eva Candal

    Published 2025-02-01
    “…In recent years, single-cell RNA sequencing studies have uncovered cellular diversity in the retina of a variety of species, providing new insights on retinal evolution and development. …”
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  5. 445
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    The large-scale whole-genome sequencing era expedited medical discovery and clinical translation by Qingxin Yang, Shuhan Duan, Yuguo Huang, Chao Liu, Mengge Wang, Guanglin He

    Published 2025-03-01
    “…Recent advancements in sequencing technology have enabled the implementation of large-scale, high-quality, diverse, multi-omics, and engineered genomic projects, including the All of Us Research Program and the Trans-Omics for Precision Medicine Program. …”
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  7. 447

    Error Correction for Check Digit Systems over p-Groups and Applications to DNA Sequences by Louis Beaugris

    Published 2025-01-01
    “…We also propose an application to DNA sequences.…”
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  8. 448

    Probabilistic estimation of rheological properties in subduction zones using sequences of earthquakes and aseismic slip by Tobias Köhne, Rishav Mallick, Mark Simons

    Published 2025-01-01
    “…In this study, we present a framework to estimate key rheological parameters of a subduction zone plate interface using simulations of sequences of earthquakes and aseismic slip, constrained by pre- and postseismic surface displacement timeseries. …”
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  9. 449

    De Novo Sequencing of a Sparassis latifolia Genome and Its Associated Comparative Analyses by Donglai Xiao, Lu Ma, Chi Yang, Zhenghe Ying, Xiaoling Jiang, Yan-quan Lin

    Published 2018-01-01
    “…To provide a better understanding of this fungus, we sequenced its whole genome, which has a total size of 48.13 megabases (Mb) and contains 12,471 predicted gene models. …”
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  10. 450
  11. 451

    On the Nonlinearity of Extended s-Type Weighted Nakano Sequence Spaces of Fuzzy Functions with Some Applications by Awad A. Bakery, Elsayed A. E. Mohamed

    Published 2022-01-01
    “…We have defined and studied the weighted Nakano sequence spaces of fuzzy functions. We have constructed the ideal generated by extended s-fuzzy functions and the sequence spaces of fuzzy functions. …”
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    Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing by Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman

    Published 2025-01-01
    “…In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. …”
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    Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

    Published 2021-01-01
    “…To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. Methods. A panel containing 153 genes associated with congenital cataracts was designed. …”
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