Assay consolidation using HiFi sequencing on the new #Revio from #pacbio is here! We are excited to work with #Bioscientia to change the paradigm of what's possible when you can access a fully empowered genome in one sequencing assay! "Results that previously required several tests can now be completed in a single run with Revio. Haplotype phasing is possible on an individual sample, and no longer requires familial segregation analysis. HiFi reads cover repetitive regions, genes with pseudogene backgrounds and allow for methylation analysis – so we can uncover imprinting defects. We believe this technology will benefit families by giving greater clarity in underlying causes of diseases and, ultimately, shortening the diagnostic odyssey they face." https://lnkd.in/ggdt3su7
James Hudson’s Post
More Relevant Posts
-
The years of dedication, moving mountains, and overcoming challenge after challenge. They are so close to a treatment, yet so far, and we all have to pitch in to help them get there. Please help #tocurearose with a donation today!
My heart is in my throat. Rose has started having seizures. The first one, her mom had to perform CPR to bring her back. She’s ok now, but every day that goes by is a day that we should be treating her and these other children. Some people look down on how I speak about neurodevelopmental, saying that it’s not scientifically accurate. These kids suffer more than just development delay. We’re not talking about how sometimes we can see regression, things can get worse, and the potential of death. Well, now Rose and our family came very close to that. Please help us get to a treatment faster. We must fund biomarker, ic50, and delivery experiments, as a pilot safety study this summer. This work only happens with you! Donate here: https://lnkd.in/g-8yTnVm #tocurearose #raregeneticdisease #hnrnph2
-
-
Ally is driven, professional, and a special leader of people. I highly recommend Ally!
Looking for new opportunities to lead commercial teams to the next level - Inside Sales, sales operations, all the above! If you hear of anything exciting or are open to chatting, send me a message or comment below. #OpenToWork
This content isn’t available here
Access this content and more in the LinkedIn app