Results 171 to 180 of about 340,805 (190)
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Whole exome and whole genome sequencing
Current Opinion in Pediatrics, 2011The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care.Advances in instrumentation have dramatically reduced the cost of DNA sequencing.
David P. Bick, David Dimmock
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Whole-Exome/Genome Sequencing and Genomics
Pediatrics, 2013As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Barry H. Thompson +2 more
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Interpreting Whole-Genome Sequencing
JAMA, 2014We believe that the report of the yield and interpretability of clinical whole-genome sequencing by Dr Dewey and colleagues1 is unduly pessimistic about the present and future efficacy of this molecular genetic technology in clinical medicine. Their experience of low coverage of key disease genes, poor nucleotide-calling reproducibility, low diagnostic
Wayne W. Grody +2 more
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2010
Whole genome sequencing provides the most comprehensive collection of an individual's genetic variation. With the falling costs of sequencing technology, we envision paradigm shift from microarray-based genotyping studies to whole genome sequencing. We review methodologies for whole genome sequencing.
Pauline C. Ng, Ewen F. Kirkness
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Whole genome sequencing provides the most comprehensive collection of an individual's genetic variation. With the falling costs of sequencing technology, we envision paradigm shift from microarray-based genotyping studies to whole genome sequencing. We review methodologies for whole genome sequencing.
Pauline C. Ng, Ewen F. Kirkness
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The Role of Whole Genome and Whole Exome Sequencing in Preventive Genomic Sequencing Programs
The American Journal of Bioethics, 2015The target article by Lazaro-Munoz and colleagues (2015) proposes policy recommendations on opt-in/opt-out strategies for the development of population-based preventive genomic sequencing programs ...
Yann Joly +2 more
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Whole-Genome Sequencing in Pharmacogenetics
Pharmacogenomics, 2013on clinical disease prediction, and remarking on the problem of ‘missing heritability’ of risk for common diseases unaccounted for by common variants [1], the arena of pharmacogenetics was often singled out as an exception [2]. GWAS of drug response traits are quite exceptional in having provided a number of clinically significant genetic predictors of
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Current Opinion in Genetics & Development, 2006
DNA sequencing can be used to gain important information on genes, genetic variation and gene function for biological and medical studies. The growing collection of publicly available reference genome sequences will underpin a new era of whole genome re-sequencing, but sequencing costs need to fall and throughput needs to rise by several orders of ...
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DNA sequencing can be used to gain important information on genes, genetic variation and gene function for biological and medical studies. The growing collection of publicly available reference genome sequences will underpin a new era of whole genome re-sequencing, but sequencing costs need to fall and throughput needs to rise by several orders of ...
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Evaluation of Whole Genome Sequencing Data
2019Whole genome sequencing (WGS) can provide comprehensive insights into the genetic makeup of lymphomas. Here we describe a selection of methods for the analysis of WGS data, including alignment, identification of different classes of genomic variants, the identification of driver mutations, and the identification of mutational signatures.
Hübschmann, Daniel, Schlesner, Matthias
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Whole-Genome Sequencing in Personalized Therapeutics
Clinical Pharmacology & Therapeutics, 2012Eleven years since the initial drafts of the human genome were published, we have begun to see the first examples of the application of whole-genome sequencing to personalized diagnosis and therapeutics. The exponential decline in sequencing costs and the constant improvement in these technologies promise to further advance the use of a patient's full ...
Euan A. Ashley, Pablo Cordero
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Requirement of Whole-Genome Sequencing
2017Crop plants that sustain modern civilizations, including common bean (Phaseolus vulgaris), were domesticated and improved by thousands of years of human selection, which transformed wild ancestors into high-yielding domesticated descendants. Understanding how the genome of crop species has been shaped through time, with and without human intervention ...
Alfredo Herrera-Estrella +1 more
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