Homo sapiens Targeted Locus (Loci)

Genomic structural variation (SV), a common hallmark of cancer, has important predictive and therapeutic implications. However, accurately detecting SV using high-throughput sequencing data remains challenging, especially for "targeted" resequencing efforts. This is critically important in the clinical setting where targeted resequencing is frequently being applied to rapidly assess clinically actionable mutations in tumor biopsies in a cost-effective manner. A resource consisting of 122 tumor and non-tumor samples, a subset of which had known translocation events based on orthogonal clinical tests, were used to develop a novel method to identify a range of SV in real targeted data.