Daniel Robyr

TL;DR: Evidence that three-quarters of the human genome is capable of being transcribed is reported, as well as observations about the range and levels of expression, localization, processing fates, regulatory regions and modifications of almost all currently annotated and thousands of previously unannotated RNAs that prompt a redefinition of the concept of a gene.

TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.

TL;DR: Exome sequencing detected somatic mutations in protein-coding regions in seven melanoma cell lines and donor-matched germline cells, which showed the hallmark of UV-induced DNA repair, but such a hallmark was absent in tumor sample–specific mutations in two metastases derived from the same individual.

TL;DR: The results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes.

TL;DR: A second route to LMNB1 overexpression and ADLD is a new example of the relevance of regulatory landscape modifications in determining Mendelian phenotypes, and found that ADLD-1-TO plausibly results from an enhancer adoption mechanism.