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...
RyanLCollins13Mike is a visionary leader, a generous mentor, and a master diplomat.
He is the ideal pick to fill the big shoes left by Jim and @skathire.
His guidance over the last seven years has been transformative for my career. Can’t wait to see what he can do for everyone in @CGM_MGH! t.co/YWmJGsR73p
cwhelanVery happy that the preprint of my work with @s_mccarroll and other great collaborators on using linkage within families to track down dispersed duplications and de novo copy number (CNV) mutations in complex regions of the genome is now on bioRxiv! t.co/l0ULTqkdQs 1/6