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...
patrick_j_shortLooking for an awesome front-end web developer @hetegene! Please RT!
Experience with Vue.js, html, CSS, knack for UI and communication skills. Previous work in healthtech/genomics great but not req'd. Apply via indeed or DM with CV/intro t.co/uISksuFoKQ - thanks!!
dgmacarthurAre you a software engineer interested in building portals that will allow biologists around the world to interact with genetic and clinical data from a million humans? Come and do it with us: t.co/rqkYAYdF5S
skathireLink between titin - largest protein in human - and disease expands to include *early-onset atrial fibrillation*
Terrific work led by @patrick_ellinor
Roughly 1% of general population carry truncating variants in the titin gene