Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations
作者： John R. ten Bosch , Wayne W. Grody
DOI: 10.1007/978-1-4939-0727-4_1
关键词:
摘要: DNA sequencing has recently undergone a dramatic transformation in speed and throughput. Instead of the traditional approach one small (150–200 bp) region at time, using specific pair complementary primers targeted to just that area interest, new platforms utilize shotgun approach, randomly shearing entire genome into over 300 million fragments, each them repeatedly parallel, then reconstructing resulting sequences, sophisticated computer software, complete genome. This “next-generation” or “massively parallel” (NGS) technology truly been “game-changer”, allowing for practical timely large panels genes, all coding regions (the exome), whole itself clinical setting. chapter reviews major NGS currently use, as well interpretive ethical challenges involved filtering through countless sequence variants observed generate meaningful report.
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