Sequence Acquisition from Mapped Single DNA Molecules

描述(由申请人提供)：项目摘要/摘要对“原始”基因组DNA的直接分析提供了对任何基因组的未经过滤和相对公正的看法，从而消除了对克隆文库和聚合酶链式反应扩增的需要。通过分析大量的单DNA分子来创建大量的数据集，这一优势得到了极大的加强。因此，提出了一种利用大的基因组DNA分子来获取序列信息的方案的开发，这些DNA分子将被光学条形码并分析序列内容，提供接近重新测序的分辨率。由于分析了大的DNA分子，该序列获取计划从异染色质区域获得信息，精确定位人类基因组中的结构变异，并表征与癌症基因组相关的异常。该方案还提供了连接来自新兴测序平台的序列数据的机会。

DESCRIPTION (provided by applicant): Project Summary/Abstract The direct analysis of "raw" genomic DNA offers an unfiltered and relatively unbiased view of any genome obviating need for clone libraries and PCR amplicons. This advantage is greatly potentiated by the analysis of large numbers of single DNA molecules for creation of voluminous data sets. As such, the development of a scheme for acquisition of sequence information is proposed using large genomic DNA molecules that will be optically barcoded and analyzed for sequence content, offering resolution approaching that of resequencing. Because large DNA molecules are analyzed, this sequence acquisition scheme obtains information from heterochromatic regions, pinpoints structural variants in human genomes, and characterizes aberrations associated with cancer genomes. This scheme also offers opportunities for linking sequence data from emerging sequencing platforms.