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Case Report: Whole genome sequencing of small cell ovarian carcinomas. [PDF]
Front OncolDaoud S +7 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
openaire +3 more sources
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, 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.
Wayne W, Grody +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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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 ...
Gabrielle, Bertier +2 more
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Computing in Science & Engineering, 1999
Computation is integrally and powerfully involved with the DNA sequencing technology that promises to reveal the complete human DNA sequence in the next several years. After introducing the latest DNA sequencing methods, this article describes three current approaches for completing the sequencing.
openaire +1 more source
Computation is integrally and powerfully involved with the DNA sequencing technology that promises to reveal the complete human DNA sequence in the next several years. After introducing the latest DNA sequencing methods, this article describes three current approaches for completing the sequencing.
openaire +1 more source
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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