Sequence Acquisition from Mapped Single DNA Molecules

描述（由申请人提供）：项目摘要/摘要“原始”基因组DNA的直接分析提供了任何基因组的未经过滤和相对公正的观点，避免了克隆文库和PCR扩增子的需要。通过分析大量单个DNA分子以创建大量数据集，极大地增强了这一优势。因此，提出了使用大基因组DNA分子来开发用于获取序列信息的方案，所述大基因组DNA分子将被光学条形码化并分析序列内容，从而提供接近重测序的分辨率。由于分析的是大的DNA分子，这种序列采集方案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畸变。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.