Results 1 to 10 of about 50 (50)
Practical Neurology, 2021 The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential ...
Huw R Morris, Henry Houlden, James Polke
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Whole genome sequencing in pharmacogenomics [PDF]
Frontiers in Pharmacology, 2015 Pharmacogenomics aims to shed light on the role of genes and genomic variants in clinical treatment response. Although, several drug-gene relationships are characterized to date, many challenges still remain toward the application of pharmacogenomics in the clinic; clinical guidelines for pharmacogenomic testing are still in their infancy, whereas the ...
Theodora Katsila, George P. Patrinos
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Whole-Genome Sequencing in Cancer [PDF]
Cold Spring Harbor Perspectives in Medicine, 2018 Genome sequencing of cancer has fundamentally advanced our understanding of the underlying biology of this disease, and more recently has provided approaches to characterize and monitor tumors in the clinic, guiding and evaluating treatment. Although cancer research is relying more on whole-genome characterization, the clinical application of genomics ...
Eric Y. Zhao +2 more
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Future of whole genome sequencing [PDF]
Journal of Paediatrics and Child Health, 2014 The era of genomic medicine, anticipated since the completion of the Human Genome Project in 2003, is now upon us. Before long, genomic information will be an integral part of the medical record, and paediatricians will be able to interrogate these data for a range of purposes: to make a diagnosis in a sick child, to diagnose or exclude a rare genetic ...
David J. Amor, David J. Amor
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Whole genome sequencing of breast cancer [PDF]
APMIS, 2019 Breast cancer was the first to take advantage of targeted therapy using endocrine therapy, and for up to 20% of all breast cancer patients a further significant improvement has been obtained by HER2‐targeted therapy. Greater insight in precision medicine is to some extent driven by technical and computational progress, with the first wave of a true ...
Rossing, Maria +3 more
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PennCNV in whole-genome sequencing data [PDF]
BMC Bioinformatics, 2017 The use of high-throughput sequencing data has improved the results of genomic analysis due to the resolution of mapping algorithms. Although several tools for copy-number variation calling in whole genome sequencing have been published, the noisy nature of sequencing data is still a limitation for accuracy and concordance among such tools.
Kai Wang +3 more
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Whole genome sequencing of elite athletes
Biology of Sport, 2020 Whole genome sequencing (WGS) has great potential to explore all possible DNA variants associated with physical performance, psychological traits and health conditions of athletes. Here we present, for the first time, annotation of genomic variants of elite athletes, based on the WGS of 20 Tatar male wrestlers.
Edward V. Generozov +15 more
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Whole-Genome Sequencing in Outbreak Analysis [PDF]
Clinical Microbiology Reviews, 2015 SUMMARYIn addition to the ever-present concern of medical professionals about epidemics of infectious diseases, the relative ease of access and low cost of obtaining, producing, and disseminating pathogenic organisms or biological toxins mean that bioterrorism activity should also be considered when facing a disease outbreak.
William A. Petri +4 more
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Whole-Genome Sequence of Mycobacterium kyorinense [PDF]
Genome Announcements, 2014 ABSTRACT We report here the first draft genome sequence of Mycobacterium kyorinense , which was described in 2009 and exhibits significant pathogenicity to humans.
Eriko Nozaki +9 more
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Whole-Genome Sequencing in Healthy People [PDF]
Mayo Clinic Proceedings, 2017 Recent technological advances have radically changed genetic testing from an expensive and burdensome undertaking to a rapid and less costly option for many purposes. The utility of "next-generation" sequencing has been found to establish the diagnosis for hundreds of genetic disorders, to assess pharmacogenomic variants, and to identify treatable ...
Noralane M. Lindor +2 more
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