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👇 Valuable skim for anyone using CRISPR-Cas9 in applications where high edit fidelity is important
Not a shocking finding (I assumed outcomes like this were very rare but possible), but hugely important to have this empirically demonstrated!
Awesome genome bio here, too👏 t.co/nZyImgodUJ
acarroll_ATGThis pre-print details DeepTrio, which was released in DeepVariant v1.1. When family data is available, DeepTrio is more accurate than DeepVariant, especially at lower sequence coverages. This details runtime and accuracy for PacBio HiFi and Illumina.