Showing 1 - 20 results of 324 for search '"whole genome sequencing"', query time: 0.08s Refine Results
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    Survey of the Applications of NGS to Whole-Genome Sequencing and Expression Profiling by Jong-Sung Lim, Beom-Soon Choi, Jeong-Soo Lee, Chanseok Shin, Tae-Jin Yang, Jae-Sung Rhee, Jae-Seong Lee, Ik-Young Choi

    Published 2012-03-01
    “…The hybrid mRNA sequences from Rohce/454 and Illumina/Solexa are more powerful to find novel genes through de novo assembly in any whole-genome sequenced species. The 20× and 50× coverage of the estimated transcriptome sequences using Roche/454 and Illumina/Solexa, respectively, is effective to create novel expressed reference sequences. …”
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    Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome by Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz

    Published 2025-01-01
    “…Abstract Multigene panel tests (MGPTs) revolutionized the diagnosis of Lynch syndrome (LS), however noncoding pathogenic variants (PVs) can only be detected by complementary methods including whole genome sequencing (WGS). Here we present a DNA-, RNA- and tumor tissue-based WGS prioritization workflow for patients with a suspicion of LS where MGPT detected no LS-related PV. …”
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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
    “…Here, a concise overview of the recent revolution in human genomic research is provided, emphasizing how these projects, in the era of large-scale whole-genome sequencing, have advanced genomic science, genomic medicine, and evolutionary genomics, as well as their clinical translational applications in disease prediction, cancer, drug response, and rare disease diagnosis.…”
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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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    Variation in mitochondrial genome primary sequence among whole-genome-sequenced strains of Neurospora crassa by K. McCluskey

    Published 2012-06-01
    “…Eighteen classical mutant strains of Neurospora crassa were subject to whole genome sequence analysis and the mitochondrial genome is analyzed. …”
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    Computational protocol for analyzing whole-genome sequencing data from Staphylococcus aureus clinical isolates by Miquel Sánchez-Osuna, Ivan Erill, Oriol Gasch, Oscar Q. Pich

    Published 2025-03-01
    “…Summary: Analyzing whole-genome sequencing (WGS) data from bacterial isolates is pivotal for understanding virulence and predicting clinical outcomes through association studies. …”
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