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[Next Generation Sequencing and ADPKD].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2015
Autosomal Dominant Polycistic Kidney Disease (ADPKD) is the most common inherited genetic disorder in the word, caused by mutations in PKD1 gene in 85% of cases and PKD 2 gene in the remaining 15%. Although diagnosis is usually based on ultrasound, MRI and CT scans, in some cases genetic testing is necessary, for example, in patients with atypical ...
Restivo, Arianna   +6 more
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Next-generation DNA sequencing

Nature Biotechnology, 2008
DNA sequence represents a single format onto which a broad range of biological phenomena can be projected for high-throughput data collection. Over the past three years, massively parallel DNA sequencing platforms have become widely available, reducing the cost of DNA sequencing by over two orders of magnitude, and democratizing the field by putting ...
Hanlee P. Ji, Jay Shendure
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Next-generation sequencing-by-hybridization

Nature Biotechnology, 2008
A new hybridization-based technology offers advantages in sequencing genomes for which a reference genome exists.
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Regulation of Next Generation Sequencing

Journal of Law, Medicine & Ethics, 2014
Since the first draft of the human genome was published in 2001, DNA sequencing technology has advanced at a remarkable pace. Launched in 1990, the Human Genome Project sought to sequence all three billion base pairs of the haploid human genome, an endeavor that took more than a decade and cost nearly three billion dollars.
Gail Javitt, Katherine Strong Carner
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Next generation sequencing technologies

Drug Discovery Today: Technologies, 2005
From the investigation of disease-associated loci in humans, to monitoring the changing genomes of pathogenic viruses and bacteria, sequencing is a powerful and versatile tool. A new generation of sequencing technologies will increase the speed and lower the cost of sequencing, and promises to expand the utility of sequencing in drug discovery and ...
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Sequencing the next generation of glioblastomas

Critical Reviews in Clinical Laboratory Sciences, 2018
The most aggressive brain malignancy, glioblastoma, accounts for 60-70% of all gliomas and is uniformly fatal. According to the molecular signature, glioblastoma is divided into four subtypes (proneural, neural, classical, and mesenchymal), each with its own genetic background.
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Next generation sequencing: is this the moment?

The Bone & Joint Journal, 2018
Periprosthetic joint infection (PJI) following joint arthroplasty is a devastating complication. There are still challenges at every level, from prevention through to diagnostics, and particularly in relation to effective management.[1][1]-[11][2] We grapple with the definition and diagnosis ...
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