Functional Genomics Center Zurich, Zurich, Switzerland.
Biotechniques. 2013 Feb;54(2):98-100. doi: 10.2144/000113992.
Herein we present the applicability of single-molecule (PacBio RS) and second-generation sequencing technology (Illumina) to the characterization of large genomic deletions. By testing samples previously characterized using a Sanger approach, our methods determined that both next-generation sequencing platforms were able to identify the position of deletion breakpoints. Our results point out various advantages of next-generation sequencing platforms when characterizing genomic deletions; however, special attention must be dedicated to identical sequences flanking the breakpoints, such as poly(N) motifs.
在此，我们展示了单分子（PacBio RS）和第二代测序技术（Illumina）在大基因组缺失特征描述中的适用性。通过测试先前使用桑格法进行特征描述的样本，我们的方法确定了两种下一代测序平台均能够确定缺失断点的位置。我们的研究结果指出了下一代测序平台在描述基因组缺失时的各种优势；然而，必须特别注意断点侧翼的相同序列，如聚（N）基序。
