Structural variations of 4 human cancer samples were identified by long span paired-end sequencing. Homo sapiens

Osteosarcoma (OS) is the most common malignant tumor in bone. This study aims to unravel structural genetic variations (SVs) which remained undetected due to insensitivity of the method or because these significant events were masked by the high background of random translocations and mutations which are present in OS tumors. The technique here consists of a long span DNA paired-end-tag (PET) sequencing approach using 1.2 - 3.1 kb genomic DNA inserts to study SVs. We analyzed pretherapeutic OS samples of four patients by whole-genome DNA-PET sequencing and describe the genomic landscape of somatic rearrangements