Clinical Validation of a Next-Generation Sequencing Screen for Mutational Hotspots in 46 Cancer-Related Genes
نویسندگان
چکیده
منابع مشابه
Strategies and Clinical Applications of Next Generation Sequencing
Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput sequencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...
متن کاملStrategies and Clinical Applications of Next Generation Sequencing
Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput sequencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...
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Recent advance in sequencing technology has enabled comprehensive profiling of genetic alterations in cancer. We have established a targeted sequencing platform using next-generation sequencing (NGS) technology for clinical use, which can provide mutation and copy number variation data. NGS was performed with paired-end library enriched with exons of 183 cancer-related genes. Normal and tumor t...
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One of the most persistent problems in clinical genetic testing is interpretation of compound heterozygotes. Particularly problematic are reces-sive genes for which compound heterozygosity is relatively common, such as CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), the gene responsible for Ͼ90% of congenital adrenal hyperplasia (CAH) 1 cases. Next-generation se-quencing (NGS)...
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Rapid adoption of next generation sequencing (NGS) in genomic medicine has been driven by low cost, high throughput sequencing and rapid advances in our understanding of the genetic bases of human diseases. Today, the NGS method has dominated sequencing space in genomic research, and quickly entered clinical practice. Because unique features of NGS perfectly meet the clinical reality (need to d...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2013
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2013.05.003