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...
aphillippyPedantic clarification on the CHM13 genome. It *is* diploid (46,XX karyotype), just much less heterozygous than a typical human cell. On the order of 1 heterozygous variant per million bases vs. 1 per thousand. t.co/pMj2r4rqEg
elizjleslieWe're in the market for postdocs (plural!) to work on a variety of funded projects. Interested in Mendelian genetics? Complex traits? Noncoding variants? Genetic modifiers of syndromic phenotypes? We've got you covered. Apply here: t.co/3ENAKOoRiy
CXchengxiangQIUExcited to share a preprint about our project in which we aim to computationally reconstruct the cellular trajectories of mammalian embryogenesis, which started in my lab rotation at the beginning of my PhD. Many thanks to @JShendure and my rotation mentor @junyue_cao !! t.co/nZl9DgeSxf