PRISM Day 1: Hear our Chief of Staff Tanya Boyaniwsky run through what truly makes #PacBioPRISM so special... when collaboration and innovation come together. ✨

Thankyou for joining us too and for your great presentation!

Always great to chat with friends and talk about One Test to Rule Them All 💪🏼and Making a difference! Thankyou! Alexander Hoischen Alice Davidson Lars Feuk

How exciting Adam. Look forward to hearing all about this!

Very please with our latest preprint. Great work by the Solve-RD long-read working group with the entire consortium. Huge effort driven by Wouter Steyaert and Lydia Sagath and of course Christian Gilissen Lisenka Vissers all sequencing done at Human Genetics Nijmegen, Radboudumc. medrxiv.org/cgi/content/sh…

PRISM San Francisco in action today. PacBio ❤️❤️❤️

Thrilled to see this announcement and looking forward to future impacts of this important work - Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers ... prn.to/3UZ2W2I

Come hear how to build high-quality genomic standards with the Platinum Pedigree and Long-read data! #ESHG2024 EichlerLab Aaron Quinlan Dr Harriet Dashnow David Porubsky Billy 🌹 Mike Eberle Egor Dolzhenko Fantastic OMICS session (June 4th): apps.m-anage.com/eshg2024/en-GB…

Building the long read tools to solve rare genetic diseases. Mike Eberle #undiagnosedhackathon2024 #CompBioTeam PacBio

First solve for team outer space, a 3kb denovo deletion #undiagnosedhackathon2024

How day 1 started: * 42 unsolved patients How we are doing so far: * 5 new diagnoses * 4 leads for tomorrow Lessons from today: * new technology: indispensable * new knowledge: essential * collaboration: crucial #undiagnosedhackathon2024 Human Genetics Nijmegen, Radboudumc Wilhelm Foundation

When CYP2D6 is your favourite gene, you want to explore (and phase) structural variants & uncover deeper insights from the genome -> 10K genomes with #longreads Estonian Biobank

Also just out - our first demonstration of the use of @pacbio long-read RNA-sequencing (IsoSeq). Particularly useful for human immune cells - w/ & w/o in vitro perturbations by pathogen exposure. So much biology to learn for human pathogen response. cell.com/iscience/fullt…

Considering a short-read upgrade? Vote: What's the most compelling feature of the #Onso system for your research? See how Onso can boost your research and grab our exclusive trade-in offer. T&Cs apply. Details: bit.ly/4bSFmtL #PacBio

We're thrilled #Revio was chosen to support the PRECISE initiative to generate the largest long-read #sequencing dataset in Southeast Asia. This partnership highlights the critical role of #PacBio HiFi sequencing in the evolution of precision medicine. bit.ly/4cj3CVU

Really excited to be part of the effort to better characterize genetic variation using a large Utah family (CEPH-1463), amazing collaboration from EichlerLab University of Utah Health and PacBio to name a few. biorxiv.org/content/10.110…

I am so excited to be in Uppsala for the Long-Read Sequencing Uppsala Meeting 2024. The lineup is great, and the meeting should be both educational and fun! #HiFiSequencing #Genomics #LRUA24

Check out how #LRUA24 is shaping up! Visit our booth and join our workshop tomorrow from 10:45 –12 PM (CEST) with Christian Betz, Mike Eberle, and @CarolaGreve. See you there! 😊 #HiFiSequencing #Genomics

Really enjoyed Lisenka Vissers presentation at #LRUA24 discussing the #Revio 500 study, looking at feasibility and cost-effectiveness of #HiFiSequencing for germline testing for #RareDiseaseResearch. Read latest preprint: bit.ly/3NARs0F

In The Pathologist, Dr Nina Gonzaludo and I explore how research consortia are solving #raredisease mysteries. Learn how the latest #genomicsequencing technologies help researchers uncover the genetic origins of disease and improving diagnoses here: bit.ly/40j6ttX