Characterization of somatic structural variations of cancer genomes using tumor and matched control cell-line samples. Homo sapiens

Recently, long-read sequencing technologies, which surely solve some of the problems related to short-read technologies such as the ambiguous alignments on repeat regions, attract lots of attention with the hope of improving the performance of SV detection. Several studies have demonstrated the effectiveness of long-read data developing software packages for detecting SVs from long-read sequencing data. Meanwhile, for the identification of somatic ones, it has been typical to utilize matched control data usually collected from noncancerous parts of the same patients. However, there are still few approaches that are specifically designed for somatic SV detection using tumor and matched control long-read sequencing data. To evaluate the effectiveness of long-read data for somatic SV detection, we collected tumor and matched long-read sequencing data from three several cell-lines.