Sequence Acquisition from Mapped Single DNA Molecules

项目概述/摘要对“原始”基因组DNA的直接分析提供了一个未经过滤和相对公正的任何基因组视图，从而避免了对克隆文库和PCR扩增子的需要。通过分析大量的单个DNA分子来创建大量的数据集，这一优势得到了极大的增强。因此，提出了一种利用大基因组DNA分子获取序列信息的方案，该方案将被光学条形码和序列内容分析，提供接近重测序的分辨率。由于分析了大的DNA分子，该序列获取方案获得了来自异染色质区域的信息，确定了人类基因组中的结构变异，并表征了与癌症基因组相关的畸变。该方案还为连接来自新兴测序平台的序列数据提供了机会。

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.