Last week, we released the initial structural variant (SV) callset for the Genome Aggregation Database (gnomAD), which included nearly a half-million distinct SVs discovered across ~15 thousand human whole-genome sequences.
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...
AndyClarkCornelTwo faculty positions in Computational Genomics at Cornell -- Search starts NOW (July 16, 2019) at the Asst/Assoc level. CB dept has amazing growth potential, exciting colleagues, and soon a new building. Appls due Sept 1. Details here: t.co/BAy9h0AAy5
RyanLCollins13@Dariloops@Phil_A_Richmond@NatureGenet Admittedly, #1 was the focus of the NG study, not #2, so on that basis I agree different contexts is an important confounder
But like your 2015 paper clearly shows, some disruptions have severe consequences that matter more than expression of the run-of-the-mill arbitrary gene