Massively parallel sequencing and PCR optimised for DNA-based diagnostics and discovery

下一代医学诊断和疾病研究中的发现将涉及PCR的结合，这是一种用于从小的起始量扩增大量DNA的工具，以及“下一代”测序，这是一种在单一仪器运行中对大量DNA进行测序的方法。这项研究的目的是描述一种方法，使科学家能够高准确性和高效率地同时筛选数百人中的数百个疾病基因。

The next generation of medical diagnostics and discovery in disease research will involve the marriage of PCR, a tool used to amplify large amounts of DNA from small starting quantities, and �next generation� sequencing, a way to sequence lots and lots of DNA on a single instrument run. This study aims to describe methods which allow scientists to screen hundreds of disease genes in hundreds of people simultaneously with high accuracy and high efficiency.