Sasithorn Chotewutmontri

TL;DR: It is shown that using PCR-free methods and increasing sequencing depth to ∼100 × shows benefits, as long as the tumour:control coverage ratio remains balanced, and many issues are in fact easy to remedy and have an immediate positive impact on mutation detection accuracy.

TL;DR: This study demonstrates the feasibility of comprehensive, real-time molecular profiling for high-risk paediatric cancer patients and expands upon previous personalised oncology endeavors, and presents a model with considerable interest and practical relevance in the burgeoning era of personalised medicine.

TL;DR: A novel multiplex strategy for sequence determination of HPV16 DNA integration sites worked very efficiently and will open new avenues for comprehensive mapping of HPV integration sites and for the possible use of HPV Integration sites as individualized biomarkers after cancer treatment of patients for the early diagnosis of residual and recurrent disease.

TL;DR: The present report not only illustrates the possible influence of specific filtering settings on the results of WES but also confirms PGAP1 as a cause of severe encephalopathy.

TL;DR: Comparisons with available epigenetic databases suggested that epichromatin is neither “classical” heterochromatin nor highly expressing genes, implying another function at the surface of interphase chromatin.