Guidelines for diagnostic next-generation sequencing
نویسندگان
چکیده
منابع مشابه
Practice guidelines for Targeted Next Generation Sequencing
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...
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The most recent meeting was held in December 2011 in Dubai. The objective of the deliberation was to evaluate the progress of implementation of the prior recommendations. Unfortunately, the goal of reporting the same units worldwide has not been realized. Dual reporting has been adopted by very few countries and has been transitory for the vast majority of these countries. Some countries have e...
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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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Diagnostic Yield of Clinical Next-Generation Sequencing Panels for Epilepsy During the past 2 years, next-generation DNA sequencing (NGS) has become a widespread diagnostic tool in neurology. Several studies have addressed the diagnostic yield and cost of NGS relative to other types of DNA testing. G-banded karyotyping identifies chromosomal aberrations and has a 3% diagnostic yield for unexpla...
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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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2015
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2015.226