Michal R. Schweiger

TL;DR: It is shown that remodelling of the genomic context abrogates transcriptional silencing of TERT in high-risk neuroblastoma and places telomerase activation in the centre of transformation in a large fraction of these tumours.

TL;DR: Per whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in H PMR.

TL;DR: It is concluded that with deep sequencing of tumor exomes one may be able to predict the microsatellite status of CRC and in addition identify potentially clinically relevant mutations.

TL;DR: Next-generation sequencing of the DAG followed by phenotype-driven bioinformatic analysis allows quick and effective differential diagnostics in medical genetics, and the authors have made their tools available to the community.

TL;DR: This work investigated the sample quality requirements of FFPE tissues for massively parallel short-read sequencing approaches and analyzed normal and tumor breast tissues using the Sequencing by Synthesis technique to simultaneously localize genome-wide copy number alterations and to detect genomic variations such as substitutions and point-deletions and/or insertions in FFPe tissue samples.