Paper in Science – Landscape of Somatic Retrotransposition in Human Cancers

We have been busy for some time helping Dr. Peter Park’s group in Harvard School of Public Health to validate and fine-tune calling somatic transposable elements (TEs) in human genome and, more importantly, in genomes of cancer cells using next generation sequencing data. I was very impressed by the accuracy of their method (note: even though next generation sequencing is an amazing and ever-developing tool, it can be very challenging to use it to accurately discover genomic structural variants). Overall, everything worked out beautifully and, now we know that (i) there are hundreds of somatic insertions in epithelial tumors but not in blood or brain cancers, and (ii) these insertions likely involve in tumorigenesis. The manuscript for this paper is published in Science this week. Link

Press release from NIH – Cancer Genome Atlas Project

The evaluation from F1000