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@AkwasiCobby Hi, thanks for your kind words!
Happy to help. Depending on what you mean:
• <=1% of all nucleotides in the average genome are impacted by structural variation
• <<1% of all variants per genome are structural variants (20k SVs / 5M total variants of all kinds)
aaronquinlanWe just released bedtools v2.30.0, which thanks to work from @haohou302 and @jomarnz improves the performance of file parsing and output (leading to 2-3X speedup in most cases) and addresses numerous other bugs and improvements!