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...
jmuiucWe again look for new tenure-track faculty in computational biology at CMU @SCSatCMU@CMUCompBio. Apply by Dec 18, 2020. CMU School of Computer Science has a vibrant environment and fantastic students. Come join us! t.co/oUEsIBfvCM
aphillippyThe Telomere-to-Telomere consortium is proud to announce our v1.0 release of a complete human genome. When @khmiga asked me to team up on this a few years ago, I wasn't sure it would be possible. Now down to just 5 gaps. What a journey! Read more here t.co/OrtRB0eSpct.co/QzjXI0vIJQ