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Genotyping TOMM40'523 poly-T polymorphisms using whole-genome sequencing. [PDF]
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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
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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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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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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JAMA, 2011
THE PAST 60 YEARS HAVE WITNESSED REMARKABLE progress in genetics and genomics from the description of the DNA double helix by Watson and Crick to the release of the first draft sequence of the human genome in 2001 and the successful completion of the human genome project in 2003.
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THE PAST 60 YEARS HAVE WITNESSED REMARKABLE progress in genetics and genomics from the description of the DNA double helix by Watson and Crick to the release of the first draft sequence of the human genome in 2001 and the successful completion of the human genome project in 2003.
openaire +1 more source