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zadetkov: 23.035
1.
  • A Randomized, Controlled Tr... A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
    Kingsmore, Stephen F.; Cakici, Julie A.; Clark, Michelle M. ... American journal of human genetics, 10/2019, Letnik: 105, Številka: 4
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    The second Newborn Sequencing in Genomic Medicine and Public Health study was a randomized, controlled trial of the effectiveness of rapid whole-genome or -exome sequencing (rWGS or rWES, ...
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2.
  • VFDB 2019: a comparative pa... VFDB 2019: a comparative pathogenomic platform with an interactive web interface
    Liu, Bo; Zheng, Dandan; Jin, Qi ... Nucleic acids research, 01/2019, Letnik: 47, Številka: D1
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    Abstract The virulence factor database (VFDB, http://www.mgc.ac.cn/VFs/) is devoted to providing the scientific community with a comprehensive warehouse and online platform for deciphering bacterial ...
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3.
  • The complete costs of genom... The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
    Schwarze, Katharina; Buchanan, James; Fermont, Jilles M ... Genetics in medicine, 01/2020, Letnik: 22, Številka: 1
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    The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little ...
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4.
  • Improved diagnostic yield c... Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
    Lionel, Anath C; Costain, Gregory; Monfared, Nasim ... Genetics in medicine, 04/2018, Letnik: 20, Številka: 4
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    PurposeGenetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving chromosomal microarray analysis and targeted ...
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5.
  • Better and faster is cheaper Better and faster is cheaper
    Sanford Kobayashi, Erica F.; Dimmock, David P. Human mutation, November 2022, 2022-11-00, 20221101, Letnik: 43, Številka: 11
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    The rapid pace of advancement in genomic sequencing technology has recently reached a new milestone, with a record‐setting time to molecular diagnosis of a mere 8 h. The catalyst behind this ...
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6.
  • Expectations and blind spot... Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
    Zhao, Xuefang; Collins, Ryan L.; Lee, Wan-Ping ... American journal of human genetics, 05/2021, Letnik: 108, Številka: 5
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    Virtually all genome sequencing efforts in national biobanks, complex and Mendelian disease programs, and medical genetic initiatives are reliant upon short-read whole-genome sequencing (srWGS), ...
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7.
  • An RCT of Rapid Genomic Seq... An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
    Dimmock, David P; Clark, Michelle M; Gaughran, Mary ... American journal of human genetics, 11/2020, Letnik: 107, Številka: 5
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    The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) ...
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8.
  • Rapid, Sensitive, Full-Geno... Rapid, Sensitive, Full-Genome Sequencing of Severe Acute Respiratory Syndrome Coronavirus 2
    Paden, Clinton R; Tao, Ying; Queen, Krista ... Emerging infectious diseases 26, Številka: 10
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    We describe validated protocols for generating high-quality, full-length severe acute respiratory syndrome coronavirus 2 genomes from primary samples. One protocol uses multiplex reverse ...
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9.
  • High-coverage whole-genome ... High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
    Byrska-Bishop, Marta; Evani, Uday S; Zhao, Xuefang ... Cell, 09/2022, Letnik: 185, Številka: 18
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    The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome sequencing (WGS) data consented for public distribution without access or use restrictions. The final, phase 3 ...
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  • Sequencing of human genomes... Sequencing of human genomes with nanopore technology
    Bowden, Rory; Davies, Robert W; Heger, Andreas ... Nature communications, 04/2019, Letnik: 10, Številka: 1
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    Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the Oxford Nanopore Technologies ...
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zadetkov: 23.035

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