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@brent_p That is curious... I wonder how recruitment/ascertainment might confound this (e.g., maybe there were different inclusion criteria for proband-only vs trio/quad WES, perhaps based on family history?). Will need to review what it says in the methods.
RyanLCollins13😳Wow! Results from clinical exomes on 2.2k samples from consanguineous pop. Loads of new discoveries and wide-ranging analyses (not just recessives!). What a great resource t.co/IwuN3UAeqJ