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

描述(由申请人提供)：这项研究的总体目标是开发一种高成本效益的超高通量方法，用于基于种群的人类基因组功能元件的定向重测序。该方法将能够快速、准确和廉价地对包括数百或数千个个体的种群样本中的数百甚至数千个确定的基因组目标位置进行重新测序。此外，它将既适用于基因组DNA模板，也适用于能够同时采样遗传变异和基因表达的cDNA。

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.