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...
MedResJournoBREAKING: NIH is slated to get $945.5 million in the coronavirus stimulus bill. When combined with the first supplemental, the Congress has provided $1.78 billion for NIH research.
h/t @Alexruoff for flagging
dgmacarthurExcellent paper by @hilsomartin, @mehurles and crew on X-linked developmental delay in over 10K families. Important finding for variant interpretation: only 13% of inherited missense variants in known X-linked DD genes in male DD patients are actually causal. t.co/XaurVSVPyC