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. 2014 Oct 10;7:76. doi: 10.1186/s13045-014-0076-2

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© Yang et al.; licensee BioMed Central Ltd. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Validation and identification of fusion genes. (A) Structure of the LRP1-SNRNP25 fusion gene. Sanger sequencing of the fusion junction is shown at the bottom. (B) RT-PCR validation of fusion transcript in the sequenced cohort. Matched normal white blood cells (WBC) were negative for fusion. (C) RT-PCR identified a second fusion positive case in a validation cohort of 20 osteosarcomas. (D) Fusion leads to elevated expression of SNRNP25 exons 2-5. (E) Interchromosomal rearrangement juxtaposing LRP1 and SNRNP25 was validated using fluorescence in situ hybridization (FISH). Arrows indicate overlapping probes.