Recently, I wrote a short peice for a great local science news & media outlet, Science In The News (SITN), to explain how population-scale genetic sequencing is driving major advances in precision medicine.
The article is targeted primarily for the lay public (i.e. non-specialists), so it's mostly jargon-free. It gets even better for those among us who are more visually inclined learners: a fellow PhD student at HMS, Brad Wierbowski, put together some great graphical figures to explain the core concepts (thanks Brad!).
Our collaboration with Sam Schilit, Cynthia Morton, and the rest of the DGAP team on a case of congenital hearing loss with a de novo balanced translocation, dubbed DGAP242, was published this week in European Journal of Human Genetics. The article can be viewed here. Congrats to...
TheFirstNuomics"..Long-read sequencing from 10x Genomics, PacBio, and Oxford Nanopore reduced dark CDS regions to approximately 45.1%, 33.3%, and 18.2% respectively.."
Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight t.co/qGMpQQMuhc
FascinatingPupaTo understand enhancers we must look at them in their natural habitat: living chromatin. Almost everything we think we know about enhancers comes from reporter studies where enhancers are thrown into non-native genomic ecosystems.