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Next-generation sequencing in the clinic
Nature Biotechnology, 2013Pools of cell lines carrying a variety of known mutations are used to validate the performance of a cancer diagnostic test based on next-generation sequencing.
Jason Y. Park +2 more
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Next Generation Sequencing: Transcriptomics
2021Fungal transcriptomics is a rising field which has gained attention in the last two decades. The recent democratization of high throughput next-generation sequencing (NGS) techniques for large-scale transcriptomic analysis provided the opportunity to explore transcriptomes at an unprecedented level of resolution.
Sillo, Fabiano
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Next-Generation Sequencing in Cancer
Journal of Maxillofacial and Oral Surgery, 2020In this article, we provide a gestalt idea about NGS technologies and their applications in cancer research and molecular diagnosis.Next-generation sequencing (NGS) advancements like DNA sequencing and RNA sequencing allow uncovering of genomic, transcriptomic, and epigenomic scenes of individual malignant growths.
S. Vinod Nair +3 more
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The chemistry of next-generation sequencing
Nature Biotechnology, 2023The first large genome fully sequenced by next-generation sequencing (NGS) was that of a bacteriophage using sequencing by synthesis (SBS) as a paradigm. SBS in NGS is underpinned by 'reversible-terminator chemistry'. To grow from proof of concept to being both affordable and practical, SBS needed to overcome a series of challenges, each of which ...
Raphaël Rodriguez, Yamuna Krishnan
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2017
This chapter summarizes the frequency and role of point mutations and small insertions or deletions (indels) in primary prostate cancer (PCa). Compared to other malignancies, PCa is rather characterized by chromosomal aberrations than by gene mutations.
Sven Perner, Anne Offermann
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This chapter summarizes the frequency and role of point mutations and small insertions or deletions (indels) in primary prostate cancer (PCa). Compared to other malignancies, PCa is rather characterized by chromosomal aberrations than by gene mutations.
Sven Perner, Anne Offermann
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[Next Generation Sequencing and ADPKD].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2015Autosomal 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, 2008DNA 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, 2008A 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, 2014Since 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, 2005From 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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