Targeted Hybrid Capture for Inherited Disease Panels
作者： Sami S. Amr , Birgit Funke
DOI: 10.1016/B978-0-12-404748-8.00016-2
关键词: Exome 、 Molecular diagnostics 、 Genetics 、 Inherited disease 、 Genome 、 Gene 、 Hybrid capture 、 Genetic testing 、 Biology 、 DNA sequencing
摘要: The advent of next-generation sequencing (NGS) technologies facilitated a breakthrough in the speed and cost sequencing. This has transformed ability molecular diagnostic laboratories to provide comprehensive genetic testing for patients by targeting large number genes, exome, or entire genome. Gene enrichment, targeted, approaches NGS include amplification-based strategies hybrid capture strategies. chapter reviews application utility target approach diagnosis constitutive diseases. In addition, comparison technical interpretive parameters other enrichment strategies, as well whole exome/genome sequencing, will be discussed.
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