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...
RyanLCollins13@ClaireRedin@nature We do! Mostly in messy regions of the genome (likely mediated by segdup homology). Our sensitivity is lower there, so we're missing some (like 8p23.1 inversion), but we still find a handful.
You might like this: we have one polymorphic balanced CTX (in two unrelated samples)!
RyanLCollins13This is diabolically misguided and a sickening embarassment for our country (even if the bill is unlikely to pass).
Hard to imagine what genetics & genomics would look like in the US without the vital contributions of Chinese students and postdocs here on visas.
I am appalled. t.co/B6E3rbxHbR