Altmüller Janine, Budde Birgit S, Nürnberg Peter
Biol Chem. 2014 Feb;395(2):231-7. doi: 10.1515/hsz-2013-0199.
Abstract Targeted re-sequencing such as gene panel sequencing (GPS) has become very popular in medical genetics, both for research projects and in diagnostic settings. The technical principles of the different enrichment methods have been reviewed several times before; however, new enrichment products are constantly entering the market, and researchers are often puzzled about the requirement to take decisions about long-term commitments, both for the enrichment product and the sequencing technology. This review summarizes important considerations for the experimental design and provides helpful recommendations in choosing the best sequencing strategy for various research projects and diagnostic applications.
摘要 靶向重测序，如基因panel测序（GPS），在医学遗传学领域的研究项目和诊断环境中都已变得非常流行。不同富集方法的技术原理此前已被多次综述；然而，新的富集产品不断涌入市场，研究人员常常对做出长期决策的要求感到困惑，这些决策涉及富集产品和测序技术。本综述总结了实验设计的重要注意事项，并为各种研究项目和诊断应用选择最佳测序策略提供了有用的建议。
