منابع مشابه
A Simple Genome Walking Strategy to Isolate Unknown Genomic Regions Using Long Primer and RAPD Primer
Background: Genome walking is a DNA-cloning methodology that is used to isolate unknown genomic regions adjacent to known sequences. However, the existing genome-walking methods have their own limitations. Objectives: Our aim was to provide a simple and efficient genome-walking technology. Material and Methods: In this paper, we dev...
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We recently demonstrated whole genome sequencing of a human fetus using only parental DNA samples and plasma from the pregnant mother. This proof-of-concept study demonstrated how samples obtained noninvasively in the first or second trimester can be analyzed to yield a highly accurate and substantially complete genetic profile of the fetus, including both inherited and de novo variation. Here,...
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INTRODUCTION The completion of the first draft of the Human Genome Project in 2001, and subsequent refinements since then, have stimulated an explosion of research about the human genome, the inherent variability of DNA sequences among humans, and the relationship of sequence variation to human health. The scientific impact of this research in understanding the pathophysiology of disease and in...
متن کاملDiagnostic Clinical Genome and Exome Sequencing
From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...
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The arrival of both high-throughput and bench-top next-generation sequencing technologies and sequence enrichment methods has revolutionized our approach to dissecting the genetic basis of cancer. These technologies have been almost invariably employed in whole-genome sequencing (WGS) and whole-exome sequencing (WES) studies. Both WGS and WES approaches have been widely applied to interrogate t...
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ژورنال
عنوان ژورنال: Current Opinion in Pediatrics
سال: 2017
ISSN: 1040-8703,1531-698X
DOI: 10.1097/mop.0000000000000532