Next generation sequencing--implications for clinical practice
نویسندگان
چکیده
منابع مشابه
Next generation sequencing--implications for clinical practice.
BACKGROUND Genetic testing in inherited disease has traditionally relied upon recognition of the presenting clinical syndrome and targeted analysis of genes known to be linked to that syndrome. Consequently, many patients with genetic syndromes remain without a specific diagnosis. AREAS OF AGREEMENT New 'next-generation' sequencing (NGS) techniques permit simultaneous sequencing of enormous a...
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...
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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DNA sequencing is the most commonly used approach for mutation scanning and is widely regarded as the gold standard. Agreed practice guidelines for both the sequencing process and data analysis are important to achieve a high quality approach, with common quality standards across different laboratories. These guidelines do not constitute an experimental protocol or troubleshooting guide, rather...
متن کاملNext-generation sequencing for clinical diagnostics.
Yang et al.1 report in the Journal the results of using whole-exome sequencing to make a molecular diagnosis in 62 of 250 cases (25%) sequenced by the clinical sequencing laboratory at the Baylor College of Medicine, which is accredited by the College of American Pathologists and certified through the Clinical Laboratory Improvement Amendments program. This level of success is a marked improvem...
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ژورنال
عنوان ژورنال: British Medical Bulletin
سال: 2011
ISSN: 0007-1420,1471-8391
DOI: 10.1093/bmb/ldr029