Large-scale analysis of human genetic variation via Multiplex Barcode Sequencing

描述（由申请人提供）：本研究的总体目标是开发一种高成本效益的超高通量方法，用于对人类基因组中的功能元件进行基于群体的靶向重测序。该方法将能够对包含数百或数千个个体的群体样品中的数百或甚至数千个限定的基因组靶位点进行快速、准确和廉价的重测序。此外，它将适用于基因组DNA模板和cDNA，使遗传变异和基因表达的同时采样。

DESCRIPTION (provided by applicant): The overall aim of this research is to develop a highly cost-effective ultra-high-throughput approach for population-based targeted resequencing of functional elements in the human genome. The approach will be capable of rapid, accurate, and inexpensive resequencing of hundreds or even thousands of defined genomic target sites in a population sample comprising hundreds or thousands of individuals. Additionally, it will be applicable to both genomic DNA templates, and to cDNA enabling simultaneous sampling of genetic variation and gene expression.